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1750 documents

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  • Emmanuelle Pion, Gisèle Bonne, Antonio Atalaia, Emmanuelle Salort-Campana, Svetlana Gorokhova, et al.. L’actionnabilité clinique des gènes. Médecine/Sciences, 2024, 40, pp.6-8. ⟨10.1051/medsci/2024128⟩. ⟨hal-04790193⟩
  • Anaís Mariscal, Carmen Martínez, Lea Goethals, Elena Cortés-Vicente, Elisabeth Moltó, et al.. Modified radioimmunoassay versus ELISA to quantify anti-acetylcholine receptor antibodies in a mouse model of myasthenia gravis. Journal of Immunological Methods, 2024, 534, pp.113748. ⟨10.1016/j.jim.2024.113748⟩. ⟨hal-04774927⟩
  • Fiorella Carla Grandi, Stéphanie Astord, Sonia Pezet, Elèna Gidaja, Sabrina Mazzucchi, et al.. Characterization of SMA type II skeletal muscle from treated patients shows OXPHOS deficiency and denervation. JCI Insight, 2024, 9 (20), pp.e180992. ⟨10.1172/jci.insight.180992.⟩. ⟨hal-04750849⟩
  • Valentina Taglietti, Kaouthar Kefi, Busra Mirciloglu, Sultan Bastu, Jean-Daniel Masson, et al.. Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy. EMBO Reports, 2024, 25 (11), pp.4898 - 4920. ⟨10.1038/s44319-024-00249-9⟩. ⟨hal-04782182⟩
  • Juliette Lemoine, Auriane Dubois, Alan Dorval, Abbass Jaber, Ganesh Warthi, et al.. Correction of exon 2, exon 2–9 and exons 8–9 duplications in DMD patient myogenic cells by a single CRISPR/Cas9 system. Scientific Reports, 2024, 14 (1), pp.21238. ⟨10.1038/s41598-024-70075-5⟩. ⟨hal-04795480⟩
  • Mathilde Beaufils, Margaux Melka, Julie Brocard, Clement Benoit, Nagi Debbah, et al.. Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation. Molecular Therapy - Nucleic Acids, 2024, 35 (3), pp.102259. ⟨10.1016/j.omtn.2024.102259⟩. ⟨hal-04789683⟩
  • Florian Wernert, Satish Babu Moparthi, Florence Pelletier, Jeanne Lainé, Eline Simons, et al.. The actin-spectrin submembrane scaffold restricts endocytosis along proximal axons. Science, 2024, 385 (6711), pp.eado2032. ⟨10.1126/science.ado2032⟩. ⟨hal-04678794⟩
  • Jeremy Rich, Melanie Bennaroch, Laura Notel, Polina Patalakh, Julien Alberola, et al.. DiPRO1 distinctly reprograms muscle and mesenchymal cancer cells. EMBO Molecular Medicine, 2024, 16 (8), pp.1840-1885. ⟨10.1038/s44321-024-00097-z⟩. ⟨hal-04697294⟩
  • Dylan Moutachi, Janek Hyzewicz, Pauline Roy, Mégane Lemaitre, Damien Bachasson, et al.. Treadmill running and mechanical overloading improved the strength of the plantaris muscle in the dystrophin‐desmin double knockout (DKO) mouse. The Journal of Physiology, In press, ⟨10.1113/JP286425⟩. ⟨hal-04643936⟩
  • Henry Kaminski, Linda Kusner, Gary Cutter, Rozen Le Panse, Cameron Wright, et al.. Does Surgical Removal of the Thymus Have Deleterious Consequences?. Neurology, 2024, 102 (12), pp.e209482. ⟨10.1212/WNL.0000000000209482⟩. ⟨hal-04617840⟩
  • Frédérique Truffault, Ludivine Auger, Nadine Dragin, Jean-Thomas Vilquin, Elie Fadel, et al.. Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology. Scientific Reports, 2024, 14 (1), pp.13955. ⟨10.1038/s41598-024-63162-0⟩. ⟨hal-04796299⟩
  • Frédérique Truffault, Ludivine Auger, Nadine Dragin, Jean-Thomas Vilquin, Elie Fadel, et al.. Comparison of juvenile and adult myasthenia gravis in a French cohort with focus on thymic histology. Scientific Reports, 2024, 14 (1), pp.13955. ⟨10.1038/s41598-024-63162-0⟩. ⟨hal-04617835⟩
  • Savine Vicart, Yann Péréon, K. Ghorab, A. Pegat, R. Dufresne, et al.. Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey.. Revue Neurologique, 2024, Revue Neurologique, Online ahead of print. ⟨10.1016/j.neurol.2024.04.007⟩. ⟨hal-04613788⟩
  • Jagan Mohan, Satish B Moparthi, Christine Girard-Blanc, Daniele Campisi, Stéphane Blanchard, et al.. ATG16L1 induces the formation of phagophore-like membrane cups. Nature Structural and Molecular Biology, 2024, 31, pp.1448-1459. ⟨10.1038/s41594-024-01300-y⟩. ⟨hal-04611251⟩
  • Eden Engal, Aveksha Sharma, Uria Aviel, Nadeen Taqatqa, Sarah Juster, et al.. DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis. Science Advances , 2024, 10 (22), pp.eadn7732. ⟨10.1126/sciadv.adn7732⟩. ⟨hal-04603956⟩
  • Paul Dowling, Capucine Trollet, Laura Muraine, Elisa Negroni, Dieter Swandulla, et al.. The potential of proteomics for in-depth bioanalytical investigations of satellite cell function in applied myology. Expert Review of Proteomics, 2024, pp.1-7. ⟨10.1080/14789450.2024.2356578⟩. ⟨inserm-04603178⟩
  • Judit Núñez-Manchón, Júlia Capó, Alicia Martínez-Piñeiro, Eduard Juanola, Jovan Pesovic, et al.. Immortalized human myotonic dystrophy type 1 muscle cell lines to address patient heterogeneity. iScience, 2024, 27 (6), pp.109930. ⟨10.1016/j.isci.2024.109930⟩. ⟨hal-04603947⟩
  • J. Theuriet, M. Masingue, A. Behin, A. Ferreiro, G. Bassez, et al.. Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. Brain - A Journal of Neurology , 2024, Brain - A Journal of Neurology, Online ahead of print. ⟨10.1093/brain/awae124⟩. ⟨hal-04688820⟩
  • Alice Granados, Maeva Zamperoni, Roberta Rapone, Maryline Moulin, Ekaterina Boyarchuk, et al.. SETDB1 modulates the TGFβ response in Duchenne muscular dystrophy myotubes. Science Advances , 2024, 10 (18), pp.eadj8042. ⟨10.1126/sciadv.adj8042⟩. ⟨hal-04601015⟩
  • Stéphane Vassilopoulos, Guillaume Montagnac. Clathrin assemblies at a glance. Journal of Cell Science, 2024, 137 (8), ⟨10.1242/jcs.261674⟩. ⟨hal-04677886⟩
  • Massiré Traoré, Chiara Noviello, Amélie Vergnol, Christel Gentil, Marius Halliez, et al.. GDF5 as a rejuvenating treatment for age-related neuromuscular failure. Brain - A Journal of Neurology , 2024, 147, pp.3834 - 3848. ⟨10.1093/brain/awae107⟩. ⟨hal-04760455⟩
  • Pierre Joanne, Yeranuhi Hovhannisyan, Alexandre Simon, Gaëlle Revet, Romain Diot, et al.. Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene. Stem Cell Research, 2024, 76, pp.103338. ⟨10.1016/j.scr.2024.103338⟩. ⟨hal-04466294⟩
  • Gorka Fernández-Eulate, Girolamo Alfieri, Marco Spinazzi, Isabelle Ackermann-Bonan, Fanny Duval, et al.. Phenotype variability and natural history of X-linked myopathy with excessive autophagy. Journal of Neurology, 2024, ⟨10.1007/s00415-024-12298-0⟩. ⟨hal-04546595⟩
  • Amélie Bourhis, Marie Robin, Stéphanie Nguyen, Arnaud Uguen, Patrice Hemon, et al.. Myopathy related to chronic Graft‐Versus‐Host Disease: From clinic to histological & immunological characterization by imaging mass cytometry. American Journal of Hematology, 2024, ⟨10.1002/ajh.27294⟩. ⟨hal-04574048⟩
  • Medhi Hassani, Dylan Moutachi, Mégane Lemaitre, Alexis Boulinguiez, Denis Furling, et al.. Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy. PLoS ONE, 2024, 19, ⟨10.1371/journal.pone.0295700⟩. ⟨hal-04501283⟩
  • Francesco Galli, Laricia Bragg, Maira Rossi, Daisy Proietti, Laura Perani, et al.. Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. EMBO Molecular Medicine, 2024, 16 (4), pp.927 - 944. ⟨10.1038/s44321-024-00031-3⟩. ⟨hal-04603972⟩
  • Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, et al.. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.66. ⟨10.1186/s13023-024-03059-3⟩. ⟨hal-04460667⟩
  • Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, et al.. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.24. ⟨10.1186/s13023-023-03008-6⟩. ⟨hal-04667757⟩
  • Marine Ferrand, Gauthier Giordano, Nathalie Mougenot, Pierre-Léo Laporte, Nicolas Vignier, et al.. Intracardiac electrophysiology to characterize susceptibility to ventricular arrhythmias in murine models. Frontiers in Physiology, 2024, 15, ⟨10.3389/fphys.2024.1326663⟩. ⟨hal-04446798⟩
  • Paul Dowling, Capucine Trollet, Elisa Negroni, Dieter Swandulla, Kay Ohlendieck. How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?. Proteomes, 2024, 12 (1), pp.4. ⟨10.3390/proteomes12010004⟩. ⟨inserm-04603208⟩
  • Charlotte Fenioux, Baptiste Abbar, Samia Boussouar, Marie Bretagne, John Power, et al.. Publisher Correction: Thymus alterations and susceptibility to immune checkpoint inhibitor myocarditis. Nature Medicine, 2024, ⟨10.1038/s41591-023-02771-0⟩. ⟨hal-04414859⟩
  • Corentin Meyer, Norma Romero, Teresinha Evangelista, Brunot Cadot, Jocelyn Laporte, et al.. IMPatienT: an Integrated web application to digitize, process and explore Multimodal PATIENt daTa. Journal of Neuromuscular Diseases, 2024, Online ahead of print. ⟨10.3233/JND-230085⟩. ⟨hal-03635350v3⟩
  • Louise Benarroch, Gisèle Bonne, Francois Rivier, Dalil Hamroun. The 2024 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscular Disorders, 2024, 34, pp.126 - 170. ⟨10.1016/j.nmd.2023.12.007⟩. ⟨hal-04423642⟩
  • Pauline Garcia, William Jarassier, Caroline Brun, Lorenzo Giordani, Fany Agostini, et al.. Setdb1 protects genome integrity in murine muscle stem cells to allow for regenerative myogenesis and inflammation. Developmental Cell, 2024, 59 (17), pp.2375-2392.e8. ⟨10.1016/j.devcel.2024.05.012⟩. ⟨hal-04747691⟩
  • Marie Bahout, Gianmarco Severa, Emna Kamoun, Françoise Bouhour, Antoine Pegat, et al.. MYH7 -related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort. Journal of Neurology, Neurosurgery and Psychiatry, 2024, jnnp-2024-334263. ⟨10.1136/jnnp-2024-334263⟩. ⟨hal-04761813⟩
  • Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea Seferian, et al.. Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation. Neuropathology and Applied Neurobiology, 2023, 50 (1), ⟨10.1111/nan.12952⟩. ⟨hal-04409827⟩
  • Cyprien Denoeud, Guotian Luo, Joseph Paquet, Julie Boisselier, Pauline Wosinski, et al.. Enzyme-controlled, nutritive hydrogel for mesenchymal stromal cell survival and paracrine functions. Communications Biology, 2023, 6 (1), pp.1266. ⟨10.1038/s42003-023-05643-y⟩. ⟨hal-04796319⟩
  • Cyprien Denoeud, Guotian Luo, Joseph Paquet, Julie Boisselier, Pauline Wosinski, et al.. Enzyme-controlled, nutritive hydrogel for mesenchymal stromal cell survival and paracrine functions. Communications Biology, 2023, 6 (1), pp.1266. ⟨10.1038/s42003-023-05643-y⟩. ⟨hal-04442110⟩
  • Déborah Cardoso, Inès Barthélémy, Stéphane Blot, Antoine Muchir. Replenishing NAD+ content reduces aspects of striated muscle disease in a dog model of Duchenne muscular dystrophy. Skeletal Muscle, 2023, 13 (1), pp.20. ⟨10.1186/s13395-023-00328-w⟩. ⟨hal-04722270⟩
  • José A Villegas, Jérôme van Wassenhove, Judith Merrheim, Karen Matta, Samy Hamadache, et al.. Blocking interleukin-23 ameliorates neuromuscular and thymic defects in myasthenia gravis. Journal of Neuroinflammation, 2023, 20 (1), pp.9. ⟨10.1186/s12974-023-02691-3⟩. ⟨hal-03972909⟩
  • Camille Morel, Eline Lemerle, Feng-Ching Tsai, Thomas Obadia, Nishit Srivastava, et al.. Caveolin-1 protects endothelial cells from extensive expansion of transcellular tunnel by stiffening the plasma membrane. eLife, 2023, 12, pp.RP92078. ⟨10.7554/eLife.92078⟩. ⟨pasteur-04364908v2⟩
  • Chiara Noviello, Kassandra Kobon, Voahangy Randrianarison-Huetz, Pascal Maire, France Piétri‐rouxel, et al.. RhoA Is a Crucial Regulator of Myoblast Fusion. Cells, 2023, 12 (23), pp.2673. ⟨10.3390/cells12232673⟩. ⟨hal-04782193⟩
  • Abigail Neininger-Castro, James Hayes, Zachary Sanchez, Nilay Taneja, Aidan Fenix, et al.. Independent regulation of Z-lines and M-lines during sarcomere assembly in cardiac myocytes revealed by the automatic image analysis software sarcApp. eLife, 2023, 12, ⟨10.7554/eLife.87065.3⟩. ⟨hal-04277000⟩
  • Pedro Monteiro, David Remy, Eline Lemerle, Fiona Routet, Anne-Sophie Macé, et al.. A mechanosensitive caveolae–invadosome interplay drives matrix remodelling for cancer cell invasion. Nature Cell Biology, 2023, ⟨10.1038/s41556-023-01272-z⟩. ⟨hal-04265437⟩
  • Charlotte Fenioux, Baptiste Abbar, Samia Boussouar, Marie Bretagne, John Power, et al.. Thymus alterations and susceptibility to immune checkpoint inhibitor myocarditis. Nature Medicine, 2023, 29 (12), pp.3100-3110. ⟨10.1038/s41591-023-02591-2⟩. ⟨hal-04510220⟩
  • Anita Kneppers, Sabrina Ben Larbi, Marine Theret, Audrey Saugues, Carole Dabadie, et al.. AMPKα2 is a skeletal muscle stem cell intrinsic regulator of myonuclear accretion. iScience, 2023, 26 (12), pp.108343. ⟨10.1016/j.isci.2023.108343⟩. ⟨hal-04729009⟩
  • Julia Pereira Lemos, Liliane Patrícia Gonçalves Tenório, Vincent Mouly, Gillian Butler-Browne, Daniella Arêas Mendes-Da-Cruz, et al.. T cell biology in neuromuscular disorders: a focus on Duchenne Muscular Dystrophy and Amyotrophic Lateral Sclerosis. Frontiers in Immunology, 2023, 14, pp.120283. ⟨10.3389/fimmu.2023.1202834⟩. ⟨hal-04603915⟩
  • Marine Geoffroy, Louna Pili, Valentina Buffa, Maëlle Caroff, Anne Bigot, et al.. CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy. Cells, 2023, 12 (20), pp.2444. ⟨10.3390/cells12202444⟩. ⟨hal-04795434⟩
  • Brandon H. Hayes, Timothée Vergne, Mathieu Andraud, Nicolas Rose. Mathematical modeling at the livestock-wildlife interface: scoping review of drivers of disease transmission between species. Frontiers in Veterinary Science, 2023, 10, pp.1225446. ⟨10.3389/fvets.2023.1225446⟩. ⟨hal-04223851⟩
  • Martin Bentler, Romain Hardet, Moritz Ertelt, Daniela Rudolf, Dorota Kaniowska, et al.. Modifying immune responses to adeno-associated virus vectors by capsid engineering. Molecular Therapy - Methods and Clinical Development, 2023, 30, pp.576-592. ⟨10.1016/j.omtm.2023.08.015⟩. ⟨hal-04659638⟩
  • Ellen Gregory, Shilpi Kalra, Trisha Brock, Gisèle Bonne, G.W. Gant Luxton, et al.. Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA. PLoS Genetics, 2023, 19 (8), pp.e1010895. ⟨10.1371/journal.pgen.1010895⟩. ⟨hal-04066711⟩
  • Barbara Tedesco, Leen Vendredy, Elias Adriaenssens, Marta Cozzi, Bob Asselbergh, et al.. HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies. Autophagy, 2023, 19 (8), pp.2217-2239. ⟨10.1080/15548627.2023.2179780⟩. ⟨hal-04253799⟩
  • Edouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, et al.. Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort. European Journal of Neurology, 2023, 30 (8), pp.2506-2517. ⟨10.1111/ene.15832⟩. ⟨hal-04277015⟩
  • Louise Benarroch, Julia Madsen-Østerbye, Mohamed Abdelhalim, Kamel Mamchaoui, Jessica Ohana, et al.. Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts. Cells, 2023, 12 (15), pp.1995. ⟨10.3390/cells12151995⟩. ⟨hal-04187751⟩
  • Louise Benarroch, Julia Madsen-Østerbye, Mohamed Abdelhalim, Kamel Mamchaoui, Jessica Ohana, et al.. Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts. Cells, 2023, 12 (15), pp.1995. ⟨10.3390/cells12151995⟩. ⟨hal-04253840⟩
  • Tatiana Fontelonga, Arielle Hall, Jaedon Brown, Youngsook Jung, Matthew Alexander, et al.. Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. Advanced Biology, 2023, ⟨10.1002/adbi.202300157⟩. ⟨hal-04253835⟩
  • Piera Smeriglio, Zalc Antoine. Cranial neural crest cells contribution to craniofacial bone development and regeneration. Current Osteoporosis Reports, 2023. ⟨hal-04166947⟩
  • Maggie Lutz, Miranda Levanti, Rebekah Karns, Genevieve Gourdon, Diana Lindquist, et al.. Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy. International Journal of Molecular Sciences, 2023, 24 (13), pp.10650. ⟨10.3390/ijms241310650⟩. ⟨hal-04259888⟩
  • Luce Barbat Du Closel, Nathalie Bonello-Palot, Yann Pereon, Andoni Echaniz-Laguna, Jean Philippe Camdessanche, et al.. Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease. European Journal of Neurology, 2023, 30 (10), pp.3265-3276. ⟨10.1111/ene.15937⟩. ⟨hal-04254200⟩
  • Lorenz H. Lehmann, Markus B. Heckmann, Guillaume Bailly, Daniel Finke, Adrien Procureur, et al.. Cardiomuscular biomarkers in the diagnosis and prognostication of immune checkpoint Inhibitor myocarditis. Circulation, 2023, 148 (6), pp.473-486. ⟨10.1161/CIRCULATIONAHA.123.062405⟩. ⟨hal-04573185⟩
  • Florent Porquet, Lin Weidong, Kévin Jehasse, Hélène Gazon, Maria Kondili, et al.. Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells. Molecular Therapy - Nucleic Acids, 2023, 32, pp.857 - 871. ⟨10.1016/j.omtn.2023.05.007⟩. ⟨hal-04287597⟩
  • Cedric Happi Mbakam, Jeanne Roustant, Joel Rousseau, Pouire Yameogo, Yaoyao Lu, et al.. Prime editing strategies to mediate exon skipping in DMD gene. Frontiers in Medicine, 2023, 10, ⟨10.3389/fmed.2023.1128557⟩. ⟨hal-04253826⟩
  • Joe-Elie Salem, Marie Bretagne, Baptiste Abbar, Sarah Leonard-Louis, Stéphane Ederhy, et al.. Abatacept/Ruxolitinib and Screening for Concomitant Respiratory Muscle Failure to Mitigate Fatality of Immune-Checkpoint Inhibitor Myocarditis. Cancer Discovery, 2023, 13 (5), pp.1100-1115. ⟨10.1158/2159-8290.CD-22-1180⟩. ⟨hal-04578810⟩
  • Antonio Farina, Cristina Birzu, Mad-Hélénie Elsensohn, Alberto Picca, Sergio Muñiz-Castrillo, et al.. Neurological outcomes in immune checkpoint inhibitor-related neurotoxicity. Brain Communications, 2023, 5 (3), pp.fcad169. ⟨10.1093/braincomms/fcad169⟩. ⟨hal-04503909⟩
  • Willem de Ridder, Geert de Vries, Kristof van Schil, Tine Deconinck, Vincent Mouly, et al.. A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype. Neuromuscular Disorders, 2023, 33 (5), pp.432-439. ⟨10.1016/j.nmd.2023.04.003⟩. ⟨hal-04253823⟩
  • Eline Lemerle, Jeanne Lainé, Marion Benoist, Gilles Moulay, Anne Bigot, et al.. Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation. eLife, 2023, 12, ⟨10.7554/eLife.84139⟩. ⟨hal-04094370⟩
  • Laurane Mackels, Xincheng Liu, Gisèle Bonne, Laurent Servais. TOR1AIP1-Associated Nuclear Envelopathies. International Journal of Molecular Sciences, 2023, 24, ⟨10.3390/ijms24086911⟩. ⟨hal-04066690⟩
  • Lorenzo Maggi, Susana Quijano-Roy, Carsten Bönnemann, Gisèle Bonne. 253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, The Netherlands. Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩. ⟨hal-04086238⟩
  • Cloé Payet, Axel You, Odessa-Maud Fayet, Edouard Hemery, Frederique Truffault, et al.. Central role of macrophages and nucleic acid release in Myasthenia Gravis thymus. Annals of Neurology, 2023, 93 (4), pp.643-654. ⟨10.1002/ana.26590⟩. ⟨pasteur-03927224⟩
  • Ivana Dabaj, Robert Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, et al.. Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant. Frontiers in Genetics, 2023, 13, pp.955041. ⟨10.3389/fgene.2022.955041⟩. ⟨inserm-04746320⟩
  • Valentina Taglietti, Kaouthar Kefi, Lea Rivera, Oriane Bergiers, Nastasia Cardone, et al.. Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy. Science Translational Medicine, 2023, 15 (685), ⟨10.1126/scitranslmed.add5275⟩. ⟨hal-04150315⟩
  • Luca Pinton, Moustafa Khedr, Valentina Lionello, Shilpita Sarcar, Sara Maffioletti, et al.. 3D human induced pluripotent stem cell–derived bioengineered skeletal muscles for tissue, disease and therapy modeling. Nature Protocols, 2023, 18 (4), pp.1337-1376. ⟨10.1038/s41596-022-00790-8⟩. ⟨inserm-04603284⟩
  • Laura Muraine, Mona Bensalah, Gillian Butler-Browne, Anne Bigot, Capucine Trollet, et al.. Update on anti-fibrotic pharmacotherapies in skeletal muscle disease. Current Opinion in Pharmacology, 2023, 68, pp.102332. ⟨10.1016/j.coph.2022.102332⟩. ⟨hal-04253789⟩
  • Lidia Almenara-Fuentes, Silvia Rodriguez-Fernandez, Estela Rosell-Mases, Katerina Kachler, Axel You, et al.. A new platform for autoimmune diseases. Inducing tolerance with liposomes encapsulating autoantigens. Nanomedicine: Nanotechnology, Biology and Medicine, 2023, pp.102635. ⟨10.1016/j.nano.2022.102635⟩. ⟨hal-03885962⟩
  • Julie Tahraoui-Bories, Antoine Mérien, Anchel González-Barriga, Jeanne Lainé, Céline Leteur, et al.. MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1. Neuropathology and Applied Neurobiology, 2023, 49 (1), ⟨10.1111/nan.12876⟩. ⟨hal-03992575⟩
  • Julien Verdier, Odessa-Maud Fayet, Edouard Hemery, Frédérique Truffault, Natalia Pinzón, et al.. Single-cell mass cytometry on peripheral cells in Myasthenia Gravis identifies dysregulation of innate immune cells. Frontiers in Immunology, 2023, 14, ⟨10.3389/fimmu.2023.1083218⟩. ⟨hal-03972888⟩
  • Adrien Morin, Amalia Stantzou, Olga Petrova, John Hildyard, Thomas Tensorer, et al.. Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle. Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (2), ⟨10.1073/pnas.2206324120⟩. ⟨hal-04302715⟩
  • Jean-Baptiste Chanson, Aleksandra Nadaj-Pakleza, Anne-Laure Bedat-Millet, Ariane Choumert, Anne Barnier, et al.. SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages. European Journal of Neurology, 2023, 30 (7), pp.2001-2011. ⟨10.1111/ene.15793⟩. ⟨hal-04254194⟩
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  • Angeline Gradolatto, Dani Nazzal, Maria Foti, Jacky Bismuth, Frederique Truffault, et al.. Defects of immunoregulatory mechanisms in myasthenia gravis: role of IL-17. Annals of the New York Academy of Sciences, 2012, 1274 (1), pp.40-47. ⟨10.1111/j.1749-6632.2012.06791.x⟩. ⟨hal-03442113⟩
  • Jean-Thomas Vilquin. Converting Pathological Cells to Therapeutic Ones: An Odyssey Through Pluripotency. Molecular Therapy, 2012, 20 (11), pp.2012-2014. ⟨10.1038/mt.2012.219⟩. ⟨hal-03824021⟩
  • Ellen Dirkx, Olivier Cazorla, Robert Schwenk, Ilka Lorenzen-Schmidt, Sakthivel Sadayappan, et al.. Protein kinase D increases maximal Ca 2+ -activated tension of cardiomyocyte contraction by phosphorylation of cMyBP-C-Ser 315. AJP - Heart and Circulatory Physiology, 2012, 303 (3), pp.H323 - H331. ⟨10.1152/ajpheart.00749.2011⟩. ⟨hal-01824324⟩
  • Anne-Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, Bodvael Fraysse, Laura Briñas, et al.. A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice. Traffic, 2012, 13 (6), pp.869-879. ⟨10.1111/j.1600-0854.2012.01348.x⟩. ⟨hal-02453822⟩
  • François-Xavier Laurent, Alain Sureau, Arnaud F Klein, François Trouslard, Erwan Gasnier, et al.. New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats. Nucleic Acids Research, 2012, 40 (7), pp.3159-3171. ⟨10.1093/nar/gkr1228⟩. ⟨hal-03001690⟩
  • Norma B. Romero, Marc Bitoun. Centronuclear Myopathies. Seminars in Pediatric Neurology, 2011, 18 (4), pp.250-256. ⟨10.1016/j.spen.2011.10.006⟩. ⟨hal-02451115⟩
  • Allamand V, Laura Briñas, Pascale Richard, Tanya Stojkovic, Susana Quijano-Roy, et al.. ColVI-myopathies: where do we stand, where do we go?. Skeletal Muscle, 2011, 1 (1), pp.30. ⟨10.1186/2044-5040-1-30⟩. ⟨inserm-00630240⟩
  • Mathieu Rederstorff, Perrine Castets, Sandrine Arbogast, Jeanne Lainé, Stéphane Vassilopoulos, et al.. Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy. PLoS ONE, 2011, 6 (8), ⟨10.1371/journal.pone.0023094⟩. ⟨hal-01716017⟩
  • Patricia Khattar, Felix Friedrich, Gisèle Bonne, Lucie Carrier, Thomas Eschenhagen, et al.. Distinction Between Two Populations of Islet-1-Positive Cells in Hearts of Different Murine Strains. Stem Cells and Development, 2011, 20 (6), pp.1043-1052. ⟨10.1089/scd.2010.0374⟩. ⟨hal-03824036⟩
  • Charlotte Fugier, Arnaud F Klein, Caroline Hammer, Stéphane Vassilopoulos, Ylva Ivarsson, et al.. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.. Nature Medicine, 2011, 17 (6), pp.720-5. ⟨10.1038/nm.2374⟩. ⟨hal-00811986⟩
  • Helene Tran, Nathalie Gourrier, Camille Lemercier-Neuillet, Claire-Marie Dhaenens, Audrey Vautrin, et al.. Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms. Journal of Biological Chemistry, 2011, 286 (18), pp.16435 - 16446. ⟨10.1074/jbc.M110.194928⟩. ⟨hal-01738403⟩
  • Martine Barkats, Thomas Voit, Aurélie Pereira de Moura, Stéphanie Astord, Romain Carcenac, et al.. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Human Molecular Genetics, 2011, 20 (4), pp.681-693. ⟨10.1093/hmg/ddq514⟩. ⟨hal-03677325⟩
  • Rabah Ben Yaou, Claire L. Navarro, Susana Quijano-Roy, Anne T. Bertrand, Catherine Massart, et al.. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.256⟩. ⟨hal-00611256⟩
  • Elisa Negroni, Denis Vallese, Jean-Thomas Vilquin, Gillian Butler-Browne, Vincent Mouly, et al.. Current advances in cell therapy strategies for muscular dystrophies. Expert Opinion on Biological Therapy, 2011, 11 (2), pp.157-176. ⟨10.1517/14712598.2011.542748⟩. ⟨hal-03824033⟩
  • Virginie François, Arnaud F Klein, Cyriaque Beley, Arnaud Jollet, Camille Lemercier, et al.. Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs. Nature Structural and Molecular Biology, 2011, 18 (1), pp.85-87. ⟨10.1038/nsmb.1958⟩. ⟨hal-03002664⟩
  • Jean-Thomas Vilquin, Cyril Catelain, Karine Vauchez. Cell therapy for muscular dystrophies. Current Opinion in Organ Transplantation, 2011, 16 (6), pp.640-649. ⟨10.1097/MOT.0b013e32834cfb70⟩. ⟨hal-03824031⟩
  • Anne-Cécile Durieux, Alban Vignaud, Bernard Prudhon, Mai Thao Viou, Maud Beuvin, et al.. A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Human Molecular Genetics, 2010, 19 (24), pp.4820-4836. ⟨10.1093/hmg/ddq413⟩. ⟨hal-02451060⟩
  • K. Gaudon, I. Penisson-Besnier, B. Chabrol, F. Bouhour, L. Demay, et al.. Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. Journal of Medical Genetics, 2010, 47 (12), pp.795-796. ⟨10.1136/jmg.2010.081034⟩. ⟨hal-03993892⟩
  • Séverine Lecourt, Jean-Pierre Marolleau, Olivia Fromigué, Karine Vauchez, Rina Andriamanalijaona, et al.. Characterization of distinct mesenchymal-like cell populations from human skeletal muscle in situ and in vitro. Experimental Cell Research, 2010, 316 (15), pp.2513-2526. ⟨10.1016/j.yexcr.2010.04.020⟩. ⟨hal-03824039⟩
  • Nadège Salvi, Aziz Guellich, Pierre Michelet, Alexandre Demoule, Morgan Le Guen, et al.. Upregulation of PPARβ/δ Is Associated with Structural and Functional Changes in the Type I Diabetes Rat Diaphragm. PLoS ONE, 2010, 5 (7), pp.e11494. ⟨10.1371/journal.pone.0011494⟩. ⟨inserm-02426556⟩
  • A. Ben Ammar, F. Petit, N. Alexandri, K. Gaudon, Stéphanie Bauché, et al.. Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. Journal of Neurology, 2010, 257 (5), pp.754-766. ⟨10.1007/s00415-009-5405-y⟩. ⟨hal-03864208⟩
  • Rozen Le Panse, Jacky Bismuth, Géraldine Cizeron-Clairac, Julia Miriam Weiss, Perrine Cufi, et al.. Thymic remodeling associated with hyperplasia in myasthenia gravis. Autoimmunity, 2010, 43 (5-6), pp.401-412. ⟨10.3109/08916930903563491⟩. ⟨hal-03442112⟩
  • Karine Vauchez, Jean-Pierre Marolleau, Michel Schmid, Patricia Khattar, Alain Chapel, et al.. Aldehyde Dehydrogenase Activity Identifies a Population of Human Skeletal Muscle Cells With High Myogenic Capacities. Molecular Therapy, 2009, 17 (11), pp.1948-1958. ⟨10.1038/mt.2009.204⟩. ⟨hal-03824042⟩
  • Alain Lescure, Mathieu Rederstorff, Alain Krol, Pascale Guicheney, Valérie Allamand. Selenoprotein function and muscle disease. Biochimica et Biophysica Acta (BBA) - General Subjects, 2009, 1790 (11), pp.1569-1574. ⟨10.1016/j.bbagen.2009.03.002⟩. ⟨hal-03844559⟩
  • C Baligand, K Vauchez, M Fiszman, J-T Vilquin, P Carlier. Discrepancies between the fate of myoblast xenograft in mouse leg muscle and NMR label persistency after loading with Gd-DTPA or SPIOs. Gene Therapy, 2009, 16 (6), pp.734-745. ⟨10.1038/gt.2009.12⟩. ⟨hal-03824059⟩
  • P. Rigoard, K. Buffenoir, Stéphanie Bauché, J.-P. Giot, J. Koenig, et al.. Organisation structurale, moléculaire, formation et maturation de la jonction neuromusculaire. Neurochirurgie, 2009, 55, pp.S34-S42. ⟨10.1016/j.neuchi.2008.03.012⟩. ⟨hal-03863763⟩
  • P. Rigoard, K. Buffenoir, Stéphanie Bauché, M. Fares, J. Koenig, et al.. Modalités et outils d’observation de la jonction neuromusculaire. Neurochirurgie, 2009, 55, pp.S43-S48. ⟨10.1016/j.neuchi.2008.03.013⟩. ⟨hal-03863752⟩
  • S. D’houtaud, E. Sztermer, K. Buffenoir, J.-P. Giot, M. Wager, et al.. Formation et régénération synaptique. Neurochirurgie, 2009, 55, pp.S49-S62. ⟨10.1016/j.neuchi.2008.03.014⟩. ⟨hal-03863711⟩
  • S. Rigoard, M. Wager, K. Buffenoir, Stéphanie Bauché, J.-P. Giot, et al.. Principaux mécanismes impliqués dans la transmission synaptique au sein de l’appareil neuromusculaire. Neurochirurgie, 2009, 55, pp.S22-S33. ⟨10.1016/j.neuchi.2008.03.011⟩. ⟨hal-03863768⟩
  • J. Koenig, Stéphanie Bauché, A. Ben Ammar, D. Nicolle, P. Rigoard, et al.. Remaniements expérimentaux et pathologiques de la jonction neuromusculaire. Neurochirurgie, 2009, 55, pp.S104-S109. ⟨10.1016/j.neuchi.2008.05.008⟩. ⟨hal-03863744⟩
  • P. Rigoard, K. Buffenoir, M. Wager, Stéphanie Bauché, J.-P. Giot, et al.. Organisation anatomique et physiologique du nerf périphérique. Neurochirurgie, 2009, 55, pp.S3-S12. ⟨10.1016/j.neuchi.2008.03.009⟩. ⟨hal-03863732⟩
  • P. Rigoard, Stéphanie Bauché, K. Buffenoir, J.-P. Giot, J.-P. Faure, et al.. Le support anatomique de la contraction musculaire. Neurochirurgie, 2009, 55, pp.S69-S82. ⟨10.1016/j.neuchi.2008.05.006⟩. ⟨hal-03863717⟩
  • P. Rigoard, K. Buffenoir, M. Chaillou, M. Fares, L. da Costa, et al.. Existe-t-il un retentissement sur la jonction neuromusculaire de rat lors de lésions du système nerveux central ?. Neurochirurgie, 2009, 55, pp.S110-S123. ⟨10.1016/j.neuchi.2008.05.009⟩. ⟨hal-03863786⟩
  • P. Rigoard, K. Buffenoir, M. Wager, Stéphanie Bauché, J.-P. Giot, et al.. Architecture moléculaire du réticulum sarcoplasmique et son rôle dans le couplage excitation-contraction. Neurochirurgie, 2009, 55, pp.S83-S91. ⟨10.1016/j.neuchi.2008.05.007⟩. ⟨hal-03863756⟩
  • A. James Mason, Wardi Moussaoui, Tamer Abdelrahman, Alyae Boukhari, Philippe Bertani, et al.. Structural Determinants of Antimicrobial and Antiplasmodial Activity and Selectivity in Histidine-rich Amphipathic Cationic Peptides. Journal of Biological Chemistry, 2008, 284 (1), pp.119-133. ⟨10.1074/jbc.M806201200⟩. ⟨hal-02495336⟩
  • P. Richard, K. Gaudon, H. Haddad, A. Ammar, E. Genin, et al.. The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Neurology, 2008, 71 (24), pp.1967-1972. ⟨10.1212/01.wnl.0000336921.51639.0b⟩. ⟨hal-03863833⟩
  • Géraldine Cizeron-Clairac, Rozen Le Panse, Mélinée Frenkian-Cuvelier, Amel Meraouna, Frédérique Truffault, et al.. Thymus and Myasthenia Gravis: What can we learn from DNA microarrays?. Journal of Neuroimmunology, 2008, 201-202, pp.57-63. ⟨10.1016/j.jneuroim.2008.06.028⟩. ⟨hal-03442089⟩
  • C. Praud, K. Vauchez, A. Lombes, M. Fiszman, J.-T. Vilquin. Myoblast Xenotransplantation as a Tool to Evaluate the Appropriateness of Nanoparticular versus Cellular Trackers. Cell Transplantation, 2008, 17 (9), pp.1035-1043. ⟨10.3727/096368908786991588⟩. ⟨hal-03824065⟩
  • Philippe Menasché, Ottavio Alfieri, Stefan Janssens, William Mckenna, Hermann Reichenspurner, et al.. The Myoblast Autologous Grafting in Ischemic Cardiomyopathy (MAGIC) Trial. Circulation, 2008, 117 (9), pp.1189-1200. ⟨10.1161/CIRCULATIONAHA.107.734103⟩. ⟨hal-03824067⟩
  • Anne Bigot, Virginie Jacquemin, Florence Debacq-Chainiaux, Gillian Butler-Browne, Olivier Toussaint, et al.. Replicative aging down-regulates the myogenic regulatory factors in human myoblasts. Biology of the Cell, 2008, 100 (3), pp.189-199. ⟨10.1042/BC20070085⟩. ⟨hal-03833741⟩
  • I. Riederer, E. Negroni, Anne Bigot, M. Bencze, J. Di Santo, et al.. Heat Shock Treatment Increases Engraftment of Transplanted Human Myoblasts Into Immunodeficient Mice. Transplantation Proceedings, 2008, 40 (2), pp.624-630. ⟨10.1016/j.transproceed.2008.01.026⟩. ⟨hal-03833753⟩
  • Pascale Richard, Karen Gaudon, Emmanuel Fournier, Christopher Jackson, Stéphanie Bauché, et al.. A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome. Neuromuscular Disorders, 2007, 17 (5), pp.409-414. ⟨10.1016/j.nmd.2007.01.018⟩. ⟨hal-03864196⟩
  • Sophie Le Ricousse-Roussanne, Jerome Larghero, Jean-Marc Zini, Veronique Barateau, Philippe Foubert, et al.. Ex vivo generation of mature and functional human smooth muscle cells differentiated from skeletal myoblasts. Experimental Cell Research, 2007, 313 (7), pp.1337-1346. ⟨10.1016/j.yexcr.2007.01.022⟩. ⟨hal-03824345⟩
  • A. James Mason, Christian Leborgne, Gilles Moulay, Amélie Martinez, Olivier Danos, et al.. Optimising histidine rich peptides for efficient DNA delivery in the presence of serum. Journal of Controlled Release, 2007, 118 (1), pp.95-104. ⟨10.1016/j.jconrel.2006.12.004⟩. ⟨hal-02495334⟩
  • Jean-Thomas Vilquin, Philippe Rosset. Mesenchymal stem cells in bone and cartilage repair: current status. Regenerative Medicine, 2006, 1 (4), pp.589-604. ⟨10.2217/17460751.1.4.589⟩. ⟨hal-03824341⟩
  • J-T Vilquin, J-P Marolleau, S Sacconi, I Garcin, M-N Lacassagne, et al.. Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients. Gene Therapy, 2005, 12 (22), pp.1651-1662. ⟨10.1038/sj.gt.3302565⟩. ⟨hal-03824077⟩
  • Camille Brasselet, Miguel Cortes Morichetti, Emmanuel Messas, Claire Carrion, Alvine Bissery, et al.. Skeletal myoblast transplantation through a catheter-based coronary sinus approach: an effective means of improving function of infarcted myocardium. European Heart Journal, 2005, 26 (15), pp.1551-1556. ⟨10.1093/eurheartj/ehi151⟩. ⟨hal-03824360⟩
  • V. Mouly, A. Aamiri, Anne Bigot, R. Cooper, S. Di Donna, et al.. The mitotic clock in skeletal muscle regeneration, disease and cell mediated gene therapy. Acta Physiologica Scandinavica, 2005, 184 (1), pp.3-15. ⟨10.1111/j.1365-201X.2005.01417.x⟩. ⟨hal-03833720⟩
  • Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, Pascale Richard, Karen Gaudon, et al.. Caractérisation physiopathologique des syndromes myasthéniques congénitaux : l'exemple de mutations dans le gène MUSK. Journal de la Société de Biologie, 2005, 199 (1), pp.61-77. ⟨10.1051/jbio:2005008⟩. ⟨hal-03993931⟩
  • Agnès Maurel, Kasra Azarnoush, Laurent Sabbah, Nicolas Vignier, Marc Le Lorc'H, et al.. Can Cold or Heat Shock Improve Skeletal Myoblast Engraftment in Infarcted Myocardium?. Transplantation, 2005, 80 (5), pp.660-665. ⟨10.1097/01.tp.0000172178.35488.31⟩. ⟨hal-03824075⟩
  • Frédéric Chevessier, Brice Faraut, Aymeric Ravel-Chapuis, Pascale Richard, Karen Gaudon, et al.. Caractérisation physiopathologique des syndromes myasthéniques congénitaux : l'exemple de mutations dans le gène MUSK. Journal de la Société de Biologie, 2005, 199 (1), pp.61-77. ⟨10.1051/jbio:2005008⟩. ⟨hal-03864221⟩
  • V Jacquemin, D Furling, Anne Bigot, G.S Butler-Browne, V Mouly. IGF-1 induces human myotube hypertrophy by increasing cell recruitment. Experimental Cell Research, 2004, 299 (1), pp.148-158. ⟨10.1016/j.yexcr.2004.05.023⟩. ⟨hal-03833701⟩
  • B Mowry, P Holmans, A Pulver, P Gejman, B Riley, et al.. Multicenter linkage study of schizophrenia loci on chromosome 22q. Molecular Psychiatry, 2004, 9 (8), pp.784-795. ⟨10.1038/sj.mp.4001481⟩. ⟨hal-03863802⟩
  • B. Eymard, C. Ioos, A. Barois, B. Estournet, M. Mayer, et al.. Syndromes myasthéniques congénitaux dus à des mutations du gène de la rapsyne. Revue Neurologique, 2004, 160 (5), pp.78-84. ⟨10.1016/s0035-3787(04)71009-7⟩. ⟨hal-03863776⟩
  • Fatima Dkhissi, He Lu, Claudine Soria, Paule Opolon, Frank Griscelli, et al.. Endostatin Exhibits a Direct Antitumor Effect in Addition to Its Antiangiogenic Activity in Colon Cancer Cells. Human Gene Therapy, 2003, 14 (10), pp.997-1008. ⟨10.1089/104303403766682250⟩. ⟨hal-04034797⟩
  • L.T. Guo, X.U. Zhang, W. Kuang, H. Xu, L.A. Liu, et al.. Laminin α2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice. Neuromuscular Disorders, 2003, 13 (3), pp.207-215. ⟨10.1016/s0960-8966(02)00266-3⟩. ⟨hal-03824384⟩
  • Sylvie Besse, Valérie Allamand, Jean-Thomas Vilquin, Zhenlin Li, Christophe Poirier, et al.. Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin α2 chain gene. Neuromuscular Disorders, 2003, 13 (3), pp.216-222. ⟨10.1016/s0960-8966(02)00278-x⟩. ⟨hal-03824380⟩
  • Albert Hagège, Claire Carrion, Philippe Menasché, Jean-Thomas Vilquin, Denis Duboc, et al.. Viability and differentiation of autologous skeletal myoblast grafts in ischaemic cardiomyopathy. The Lancet, 2003, 361 (9356), pp.491-492. ⟨10.1016/S0140-6736(03)12458-0⟩. ⟨hal-03824092⟩
  • Rozen Le Panse, Louis Dubertret, Bernard Coulomb. p38 Mitogen-activated Protein Kinase Activation by Ultraviolet A Radiation in Human Dermal Fibroblasts¶. Photochemistry and Photobiology, 2003, 78 (2), pp.168. <a target="_blank" href="https://dx.doi.org/10.1562/0031-8655(2003)0782.0.co;2">⟨10.1562/0031-8655(2003)0782.0.co;2⟩. ⟨hal-03442095⟩
  • Claudine Laurent, Dana Niehaus, Stéphanie Bauché, Douglas Levinson, Stéphane Soubigou, et al.. CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2003, 116B (1), pp.45-50. ⟨10.1002/ajmg.b.10797⟩. ⟨hal-03863965⟩
  • Bruno Pitard, Hélène Pollard, Onnik Agbulut, Olivier Lambert, Jean-Thomas Vilquin, et al.. A Nonionic Amphiphile Agent Promotes Gene Delivery In Vivo to Skeletal and Cardiac Muscles. Human Gene Therapy, 2002, 13 (14), pp.1767-1775. ⟨10.1089/104303402760293592⟩. ⟨hal-03824393⟩
  • Ana Buj-Bello, Furling D, Helene Tronchere, Jocelyn Laporte, Thierry Lerouge, et al.. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Human Molecular Genetics, 2002, 11 (19), pp.2297-2307. ⟨10.1093/hmg/11.19.2297⟩. ⟨hal-04481805⟩
  • Daniel Skuk, Jean Thomas Vilquin, Jacques Tremblay. Experimental and therapeutic approaches to muscular dystrophies. Current Opinion in Neurology, 2002, 15 (5), pp.563-569. ⟨10.1097/00019052-200210000-00007⟩. ⟨hal-03824399⟩
  • Arnaud Ferry, Noirez Philippe, C. Le Page, I. Ben Salah, Dominique Daegelen, et al.. Effects of anabolic/androgenic steroids on regenerating skeletal muscles in the rat. Acta Physiologica Scandinavica, 2001, 166 (2), pp.105-110. ⟨10.1046/j.1365-201x.1999.00549.x⟩. ⟨hal-04588851⟩
  • Bruno Pouzet, Saïd Ghostine, Jean-Thomas Vilquin, Isabelle Garcin, Marcio Scorsin, et al.. Is Skeletal Myoblast Transplantation Clinically Relevant in the Era of Angiotensin-Converting Enzyme Inhibitors?. Circulation, 2001, 104 (suppl 1), pp.I-223-I-228. ⟨10.1161/hc37t1.094593⟩. ⟨hal-03824409⟩
  • Jt Vilquin, Pf Kennel, M Paturneau-Jouas, P Chapdelaine, N Boissel, et al.. Electrotransfer of naked DNA in the skeletal muscles of animal models of muscular dystrophies. Gene Therapy, 2001, 8 (14), pp.1097-1107. ⟨10.1038/sj.gt.3301484⟩. ⟨hal-03824098⟩
  • Bruno Pouzet, Jean-Thomas Vilquin, Albert Hagège, Marcio Scorsin, Emmanuel Messas, et al.. Factors affecting functional outcome after autologous skeletal myoblast transplantation. Annals of Thoracic Surgery, 2001, 71 (3), pp.844-851. ⟨10.1016/s0003-4975(00)01785-9⟩. ⟨hal-03824418⟩
  • Philippe Menasché, Albert Hagège, Marcio Scorsin, Bruno Pouzet, Michel Desnos, et al.. Myoblast transplantation for heart failure. The Lancet, 2001, 357 (9252), pp.279-280. ⟨10.1016/S0140-6736(00)03617-5⟩. ⟨hal-03824102⟩
  • B. Pouzet, J.-T. Vilquin, A. Hagege, M. Scorsin, E. Messas, et al.. Intramyocardial Transplantation of Autologous Myoblasts : Can Tissue Processing Be Optimized?. Circulation, 2000, 102 (Supplement 3), pp.III-210-III-215. ⟨10.1161/01.cir.102.suppl_3.iii-210⟩. ⟨hal-03824428⟩
  • B. Pouzet, J.-T. Vilquin, A. Hagege, M. Scorsin, E. Messas, et al.. Intramyocardial Transplantation of Autologous Myoblasts : Can Tissue Processing Be Optimized?. Circulation, 2000, 102 (Supplement 3), pp.III-210-III-215. ⟨10.1161/01.cir.102.suppl_3.iii-210⟩. ⟨hal-03824106⟩
  • J-T Vilquin, B Guérette, J Puymirat, D Yaffe, F Tomé, et al.. Myoblast transplantations lead to the expression of the laminin α2 chain in normal and dystrophic (dy/dy) mouse muscles. Gene Therapy, 1999, 6 (5), pp.792-800. ⟨10.1038/sj.gt.3300889⟩. ⟨hal-03824110⟩
  • Nathalie Neyroud, Pascale Richard, Nicolas Vignier, Claire Donger, Isabelle Denjoy, et al.. Genomic Organization of the KCNQ1 K + Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome. Circulation Research, 1999, 84 (3), pp.290-297. ⟨10.1161/01.res.84.3.290⟩. ⟨hal-02330607⟩
  • J.-T. Vilquin, V. Brussee, I. Asselin, I. Kinoshita, M. Gingras, et al.. Evidence ofmdx mouse skeletal muscle fragility in vivo by eccentric running exercise. Muscle & Nerve, 1998, 21 (5), pp.567-576. <a target="_blank" href="https://dx.doi.org/10.1002/(sici)1097-4598(199805)21:53.0.co;2-6">⟨10.1002/(sici)1097-4598(199805)21:53.0.co;2-6⟩. ⟨hal-03824116⟩
  • Hijiri Ito, Jean-Thomas Vilquin, Daniel Skuk, Brigitte Roy, Marlyne Goulet, et al.. Myoblast transplantation in non-dystrophic dog. Neuromuscular Disorders, 1998, 8 (2), pp.95-110. ⟨10.1016/s0960-8966(97)00148-x⟩. ⟨hal-03824439⟩
  • B. Guérette, J. Vilquin, M. Gingras, C. Gravel, K. Wood, et al.. Prevention of Immune Reactions Triggered by First-Generation Adenoviral Vectors by Monoclonal Antibodies and CTLA4Ig. Human Gene Therapy, 1996, 7 (12), pp.1455-1463. ⟨10.1089/hum.1996.7.12-1455⟩. ⟨hal-03824150⟩
  • I. Kinoshita, J.T. Vilquin, R. Roy, J.P. Tremblay. Successive injections in MDX mice of myoblasts grown with bFGF. Neuromuscular Disorders, 1996, 6 (3), pp.187-193. ⟨10.1016/0960-8966(96)00004-1⟩. ⟨hal-03824447⟩
  • Ikuo Kinoshita, Jean-Thomas Vilquin, J. Tremblay. Mechanism of increasing dystrophin-positive myofibers by myoblast transplantation: study using mdx/β-galactosidase transgenic mice. Acta Neuropathologica, 1996, 91 (5), pp.489-493. ⟨10.1007/s004010050456⟩. ⟨hal-03824146⟩
  • J Vilquin, E Wagner, I Kinoshita, R Roy, J Tremblay. Successful histocompatible myoblast transplantation in dystrophin-deficient mdx mouse despite the production of antibodies against dystrophin.. Journal of Cell Biology, 1995, 131 (4), pp.975-988. ⟨10.1083/jcb.131.4.975⟩. ⟨hal-03824128⟩
  • J.T. Vilquin, I. Kinoshita, R. Roy, J.P. Tremblay. Cyclophosphamide immunosuppression does not permit successful myoblast allotransplantation in mouse. Neuromuscular Disorders, 1995, 5 (6), pp.511-517. ⟨10.1016/0960-8966(95)00011-b⟩. ⟨hal-03824453⟩
  • Jean-Thomas Vilquin, Benoît Guérette, Ikuo Kinoshita, Brigitte Roy, Marlyne Goulet, et al.. FK506 Immunosuppression to Control the Immune Reactions Triggered by First-Generation Adenovirus-Mediated Gene Transfer. Human Gene Therapy, 1995, 6 (11), pp.1391-1401. ⟨10.1089/hum.1995.6.11-1391⟩. ⟨hal-03824124⟩
  • Isabelle Asselin, Martine Tremblay, Jean-Thomas Vilquin, Benoît Guérette, R. Roy, et al.. Quantification of normal dystrophin mRNA following myoblast transplantation in mdx mice. Muscle & Nerve, 1995, 18 (9), pp.980-986. ⟨10.1002/mus.880180909⟩. ⟨hal-03824455⟩
  • Ikuo Kinoshita, Jean-Thomas Vilquin, Jacques Tremblay. Pretreatment of myoblast cultures with basic fibroblast growth factor increases the efficacy of their transplantation in mdx mice. Muscle & Nerve, 1995, 18 (8), pp.834-841. ⟨10.1002/mus.880180806⟩. ⟨hal-03824143⟩
  • P.F. Kennel, J.T. Vilquin, S. Braun, P. Fonteneau, J.M. Warter, et al.. Myasthenia Gravis: Comparative Autoantibody Assays Using Human Muscle, TE671, and Glucocorticoid-Treated TE671 Cells as Sources of Antigen. Clinical immunology and immunopathology, 1995, 74 (3), pp.293-296. ⟨10.1006/clin.1995.1042⟩. ⟨hal-03824130⟩
  • Isabelle Asselin, Jean Thomas Vilquin, Jacques Tremblay, Benoǐt Guérette, Raynald Roy. Lymphocyte infiltration following allo-and xenomyoblast transplantation in mdx mice. Muscle & Nerve, 1995, 18 (1), pp.39-51. ⟨10.1002/mus.880180107⟩. ⟨hal-03824468⟩
  • Ikuo Kinoshita, Jean-Thomas Vilquin, Benoǐt Guérette, Isabelle Asselin, Raynald Roy, et al.. Very efficient myoblast allotransplantation in mice under FK506 immunosuppression. Muscle & Nerve, 1994, 17 (12), pp.1407-1415. ⟨10.1002/mus.880171210⟩. ⟨hal-03824133⟩
  • A Bosch, I Banchs, A Puig, Gilles Vergnaud, V Allamand, et al.. The EUROGEM map of human chromosome 12.. European Journal of Human Genetics, 1993, 2 (3), pp.226-7. ⟨hal-01160670⟩
  • Ketty Schwartz, Catherine Chassagne, Kenneth Boheler. The molecular biology of heart failure. Journal of the American College of Cardiology, 1993, 22 (4), pp.A30-A33. ⟨10.1016/0735-1097(93)90459-E⟩. ⟨hal-04275217⟩
  • K Schwartz, Catherine Chassagne, L Carrier, K Boheler. [Left ventricular hypertrophy: molecular aspects].. Archives des Maladies du Coeur et des Vaisseaux, 1993, 86 Spec No 1, pp.73-5. ⟨hal-04275406⟩
  • K Schwartz, L Carrier, Catherine Chassagne, C Wisnewsky, K Boheler. Regulation of myosin heavy chain and actin isogenes during cardiac growth and hypertrophy.. Symposia of the Society for Experimental Biology, 1992, 46, pp.265-72. ⟨hal-04275119⟩
  • L Carrier, Catherine Chassagne, K Boheler, K Schwartz. [Molecular bases of cardiac aging].. La Presse Médicale, 1992, 21 (26), pp.1196-8. ⟨hal-04275777⟩
  • K Boheler, Catherine Chassagne, X Martin, C Wisnewsky, K Schwartz. Cardiac expressions of alpha- and beta-myosin heavy chains and sarcomeric alpha-actins are regulated through transcriptional mechanisms. Results from nuclear run-on assays in isolated rat cardiac nuclei.. Journal of Biological Chemistry, 1992, 267 (18), pp.12979-85. ⟨hal-04275047⟩
  • L Carrier, K Boheler, Catherine Chassagne, D de la Bastie, C Wisnewsky, et al.. Expression of the sarcomeric actin isogenes in the rat heart with development and senescence.. Circulation Research, 1992, 70 (5), pp.999-1005. ⟨10.1161/01.res.70.5.999⟩. ⟨hal-04275109⟩
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  • Serge Braun, Christine Tranchant, Jean-Thomas Vilquin, Pascale Labouret, Jean-Marie Warter, et al.. Stimulating effects of prednisolone on acetylcholine receptor expression and myogenesis in primary culture of newborn rat muscle cells. Journal of the Neurological Sciences, 1989, 92 (2-3), pp.119-131. ⟨10.1016/0022-510x(89)90130-5⟩. ⟨hal-03824139⟩

Communications dans un congrès427 document

  • J Hulot, L Deshayes, A Ruiz-Velasco, K Wahbi, A Muchir, et al.. The H222P-Lamin mutation induces heart failure via impaired mitochondrial calcium uptake in human cardiac laminopathy. ESC Congress 2024, Aug 2024, London, United Kingdom. ⟨10.1093/eurheartj/ehae666.3680⟩. ⟨hal-04764816⟩
  • Gisèle Bonne. TREATABOLOME, A RARE DISEASES’ TREATMENT AWARENESS PROJECT. 9ème Journée nationale BRAIN -TEAM, Filière nationale de Santé Maladies rares du système nerveux central, Mar 2024, Paris, France. ⟨hal-04522201⟩
  • Paloma Navas-Navarro, Hélène Benyamine, Lucie Vezzana, Aline Huguet-Lachon, Geneviève Gourdon, et al.. Treatment of myotonic dystrophy type 1 with CRISPR/Cas9. SFTCG, Mar 2024, Nantes (France), France. ⟨hal-04541390⟩
  • Gisèle Bonne. ERDERA and opportunities for French genetics teams. 3rd Thursday of Clinical Genetics - “2025 France Genomic Medicine Initiative” (PFMG 2025) and the International Context, Feb 2024, Paris, France. ⟨hal-04460541⟩
  • Gisèle Bonne. Comment résoudre les impasses diagnostiques des maladies rares : partage systématique des données paneuropéennes et analyse collaborative : le projet Solve-RD. Journée thématique sur l'errance et l'impasse diagnostiques - Filière Filnemus, Filnemus, Dec 2023, Paris, France. ⟨hal-04319087⟩
  • Valérie Allamand, Soledad Monges, Corine Gartioux, Taratuto Ana Lia, Alix De Becdelièvre, et al.. A complex COL6A3 mutation identification: it takes an international village. Collagen VI International Research Summit, Fundacion Noelia, Nov 2023, San Sebastian, Spain. ⟨hal-04475082⟩
  • Kourtzas D, Rocio Nur Villar Quiles, Gartioux C, Allamand V. ECM characterization in novel cellular models for COL6-RD. Collagen VI International Research Summit, Fundacion Noelia, Nov 2023, San Sebastian, Spain. ⟨hal-04475051⟩
  • Gisèle Bonne. 2002 - 2023 : l’Odyssée de… la Myologie. 20èmes Journées de la Société Française de Myologie, Societe Française de Myologie, Nov 2023, La Baule (France), France. ⟨hal-04319081⟩
  • M. Okubo, A. Brull, M. Beuvin, N. Mougenot, V. Paradis, et al.. O03 In vivo gene therapy for striated muscle laminopathy. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S67, ⟨10.1016/j.nmd.2023.07.018⟩. ⟨hal-04280254⟩
  • A. Merlet, E. Lacène, I. Nelson, G. Brochier, C. Labasse, et al.. P338 Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA). 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S99, ⟨10.1016/j.nmd.2023.07.136⟩. ⟨hal-04280238⟩
  • M Gomez Garcia, R. Garcia-Uzquiano, L. Le Goff, V. Manel, I. Dabaj, et al.. P431 Steroid treatment may change natural history in congenital laminopathies. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S160, ⟨10.1016/j.nmd.2023.07.372⟩. ⟨hal-04280227⟩
  • J. de Winter, L. van de Vondel, Gisèle Bonne, T. Stojkovic, S. Elouej, et al.. P158 Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S139, ⟨10.1016/j.nmd.2023.07.290⟩. ⟨hal-04280233⟩
  • L. Benarroch, I. Nelson, T. Stojkovic, B Mohand Oumoussa, H. Madry, et al.. P166 Deciphering the genetic cause of oculopharyngodistal myopathy in a French cohort using Cas9-targeted long-read sequencing. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S141, ⟨10.1016/j.nmd.2023.07.298⟩. ⟨hal-04280249⟩
  • V. Decostre, C. Chikhaoui, C. Vigouroux, A. Behin, G. Bassez, et al.. VP429 Impaired skeletal muscle strength in adult patients with laminopathies. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston SC, United States. pp.S159-S160, ⟨10.1016/j.nmd.2023.07.370⟩. ⟨hal-04280272⟩
  • L. Benarroch, J. Madsen-Østerbye, M. Abdelhalim, K. Mamchaoui, J. Ohana, et al.. A robust and practical myogenic system to explore cellular and genomic features of muscle differentiation. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S158, ⟨10.1016/j.nmd.2023.07.363⟩. ⟨hal-04280205⟩
  • A. Atalaia, R. Thompson, L. Matalonga, C. Hernandez-Ferrer, A. Corvo, et al.. P192 The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect's GPAP and other clinical diagnosis support tools. 28th International Annual Congress of the World Muscle Society, Oct 2023, Charleston, United States. pp.S142, ⟨10.1016/j.nmd.2023.07.301⟩. ⟨hal-04280259⟩
  • Gisèle Bonne, Martin Krahn. Concept de gènes actionnables et application dans le domaine neuromusculaire.. 25èmes Journées Neuromusculaires de Marseille, Sep 2023, Marseille, France. ⟨hal-04189737⟩
  • Gisèle Bonne. Insights in the pathophysiological mechanisms of striated muscle Laminopathies. Ottawa NMD 2023 Conference, Sep 2023, Ottawa, Canada. ⟨hal-04189748⟩
  • Gisèle Bonne. How to solve rare diseases: systematic pan-European data sharing and collaborative analysis: the Solve-RD project. 15th Congress of the European Paedriatric Neurology Society, European Paedriatric Neurology Society, Jun 2023, Prague, Czech Republic. ⟨hal-04189585⟩
  • Gisèle Bonne. Insights in the pathophysiological mechanisms of striated muscle Laminopathies. European Meeting on Intermediate Filaments, Elly Hol, Jun 2023, Noorwijkerhout, Netherlands. ⟨hal-04189581⟩
  • Gisèle Bonne. Le Treatabolome : une base de donnée des traitements existant pour les maladies rares à l’échelle du gène/variant. Webinaire de la Filière en Santé Filnemus, May 2023, Paris, France. ⟨hal-04189577⟩
  • Louise Benarroch, Julia Madsen-Østerbye, Mohamed Abdelhalim, Kamel Mamchaoui, Jessica Ohana, et al.. Validation of Myo-converted fi broblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189720⟩
  • Rocio Garcia-Uzquiano, Marta Gomez-García de La Banda, Laure Le Goff, Veronique Manel, Ivana Dabaj, et al.. Steroid treatment may change natural history in congenital laminopathies. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189730⟩
  • Daniel Moore, Heather Steele-Stallard, Luca Pinton, Valentina Lionello, Salma Jalal, et al.. Using patient iPSC-derived skeletal muscle models for development of a CRISPR-based exon removal therapeutic strategy. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189588⟩
  • Rabah Ben Yaou, Louise Benarroch, Marine Leconte, Maud Beuvin, Isabelle Nelson, et al.. Recent insights in the pathophysiological mechanisms of striated muscle laminopathies. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189555⟩
  • Magali Seguret, C. Jouve, Z R. Al Sayed, C. Pereira, V. Ragot, et al.. Modeling of LMNA p.H222P mutation- related cardiomyopathy using human induced pluripotent stem cells. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189728⟩
  • Louise Benarroch, Anne T. Bertrand, Maud Beuvin, Isabelle Nelson, Naïra Naouar, et al.. Identification of potential genetic modifi ers underlying phenotypic variability in a French family with striated muscle laminopathies. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189567⟩
  • Marine Leconte, Anne Bertrand, Zoheir Guesmia, Gisèle Bonne, Gisèle Bonne. DNA damage repair in LMNA-related congenital muscular dystrophy. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189722⟩
  • Anne T Bertrand, Mariko Okubo, Astrid Brull, Maud Beuvin, Nathalie Mougenot, et al.. Challenges in gene therapy for striated muscle laminopathy. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04170075⟩
  • Valérie Decostre, Cathy Chikhaoui, Corinne Vigouroux, Susana Quijano-Roy, Karim Wahbi, et al.. Quantification of skeletal muscle strength in laminopathies. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189561⟩
  • Mariko Okubo, Astrid Brull, Maud Beuvin, Nathalie Mougenot, Valérie Paradis, et al.. Gene therapy for striated muscle laminopathy (in vivo study). 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨hal-04189734⟩
  • Noreen Khokhar, Cathleen Hagemann, Luca Pinton, Daniel Moore, Jean-Marie Cuisset, et al.. Investigating lineage-specifi c phenotypes of laminopathies using induced pluripotent stem cells. 4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩. ⟨hal-04189725⟩
  • A. Corvó, L. Matalonga, C. Hernandez-Ferrer, R. Thompson, L. Carmody, et al.. Treatabolome DB: linking gene and variants with treatments for rare diseases. Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic. ⟨hal-04086225⟩
  • Isabelle Nelson, German Demidov, Enzo Cohen, Aurélien Perrin, Mireille Cossée, et al.. Solve-NMD in Paris: Project results. Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic. ⟨hal-04086236⟩
  • Leslie Matalonga, Ida Paramonov, Wouter Steyaert, Heba Morsy, Daniel Danis, et al.. SNV-InDel working group: Results and lessons learned from the analysis of 22,035 exomes and genomes from 6 European reference networks. Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic. ⟨hal-04086234⟩
  • Gisèle Bonne, Martin Krahn. Linking actionable genes to the treatabolome in myopathies. NC-IUPHAR Symposium April 2023, Apr 2023, Paris, France. ⟨hal-04078530⟩
  • Gisèle Bonne. The Treatabolome flags treatable genes and variants: an emerging concept. NC-IUPHAR Symposium April 2023, Servier, Apr 2023, Paris, France. ⟨hal-04189545⟩
  • Mohammed Khamaysa, Muriel Lefort, Mélanie Pélégrini-Issac, Alexandra Lackmy-Vallée, Arnaud Preuilh, et al.. Analyse volumétrique du tronc cérébral : prédictibilité de la fonction respiratoire et bulbaire dans la sclérose latérale amyotrophique. JNLF 2023, Apr 2023, Lyon, France. pp.S140-S141, ⟨10.1016/j.neurol.2023.01.647⟩. ⟨hal-04086695⟩
  • Leslie Caron, Allamand V. Modelling LAMA2-CMD to explore physiopathology and therapeutic options. EJPRD Workshop: LAMA2-Muscular Dystrophy: Paving the road to therapy, Mar 2023, Barcelone, Spain. pp.16-22, ⟨10.1016/j.nmd.2024.01.001⟩. ⟨hal-04475069⟩
  • Mário Gomes-Pereira. Toxic RNA and glial cell pathology: deciphering brain dysfunction in myotonic dystrophy. 9th Molecular and Cell Biology Symposium, Feb 2023, Porto, Portugal. ⟨hal-04007409⟩
  • Marisa Cappella. A new AAV-mediated gene therapy approach for C9orf72-linked ALS. Inaugural Symposium of the Sorbonne Université "Stem Cells and Regenerative Medicine" Network, Dec 2022, PARIS, France. ⟨hal-04006616⟩
  • Stéphanie Tomé. Long read sequencing in DM1. Workshop on Long read sequencing of expanded tandem repeats, Dec 2022, London, United Kingdom. ⟨hal-04004440⟩
  • Olivier Benveniste. Refractory myositides.. XVIth UCLouvain Review Course on Systemic Rheumatic Diseases, Nov 2022, Bruxelles, Belgium. ⟨hal-03864159⟩
  • Laure de Pontual, Guillaume Diop, Sonia Lameiras, Tina Alaeitabar, Sylvain Baulande, et al.. Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1. 19ème Journées de la Société Française de Myologie (JSFM), Nov 2022, Toulouse, France. ⟨hal-04004435⟩
  • Gisèle Bonne. Table Ronde: Quel avenir pour la recherche sur les maladies rares ?. Dix ans de contribution de l’ANR au domaine des maladies rares, Nov 2022, Paris, France. ⟨hal-03984507⟩
  • Marine Leconte, Gisèle Bonne, Anne T Bertrand. Etude des dommages de l'ADN dans la dystrophie musculaire congénitale liée à LMNA. 19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. ⟨hal-04004845⟩
  • Stéphane Vassilopoulos. Caveolae and Bin1 for ring-shaped platforms for T-tubule initiation. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. ⟨hal-03920050⟩
  • Cadot Bruno. Mechanical forces in striated muscles cells. Journées de la Société Française de Myologie, Nov 2022, Toulouse, France. ⟨hal-03921731⟩
  • Olivier Benveniste. Les myopathies inflammatoires en 2022 : de la physiopathologie aux traitements ciblés. 17ème Journées Scientifiques de la Société Tunisienne d’Immunologie, Nov 2022, Hammamet, Tunisie. ⟨hal-03864162⟩
  • Julia Pereira Lemos. The thymus in the pathogenesis/ pathophysiology of Amyotrophic Lateral Sclerosis. Symposium of the National Institute of Science, Nov 2022, Rio de Janeiro, Brazil. ⟨hal-04006594⟩
  • Gisèle Bonne. The clinico-genetic spectrum of Lamin A/C gene (LMNA) mutations. A hybrid workshop on the nuclear envelope, mechanobiology and rare disease, Oct 2022, Hybrid conference, Singapore. ⟨hal-03984506⟩
  • Anne T Bertrand, Astrid Brull, Feriel Azibani, Ludovic Arandel, Gisèle Bonne. Origin of the increased severity of LMNA-related muscular dystrophy compared with Emery-Dreyfuss muscular dystrophy. A hybrid workshop on the nuclear envelope, mechanobiology and rare diseases, Oct 2022, Singapore, Singapore. ⟨hal-04004827⟩
  • Chiara Noviello, Massiré Traoré, Bruno Cadot, Lucile Saillard, Béatrice Matot, et al.. Exploring the protective role of GDF5 against skeletal muscle disuse atrophy. 19th IIM Meeting, Oct 2022, Assisi (Perugia), France. ⟨hal-04020147⟩
  • Cadot Bruno. From the Muscle Atlas to an AI-based diagnostic tool. Congress of the World Muscle Society, Oct 2022, Halifax, Canada. ⟨hal-03920036⟩
  • Amélie Vergnol. Role of MuscleBlind-Like proteins in the regulation of expression of CaVβ1 isoforms in adult skeletal muscle. World Muscle Society 2022, Oct 2022, Halifax (Canada), France. ⟨hal-03999572⟩
  • Piera Smeriglio. Genetique, epigenetique et SMA. Biogen round table on adult spinal atrophy, Sep 2022, PARIS, France. ⟨hal-04002832⟩
  • Stéphanie Bauché, Edoardo Malfatti, Morgane Euchparmakian, Antoine Muchir. Mécanismes nucléaires et synaptiques identifiés dans une nouvelle mutation TOR1AIP1 associée à la myasthénie des ceintures- Rôle de LAP1 dans la fonction NMJ et la pathologie. journée réseau nationale syndrome myasthénies congénitaux, Sep 2022, Paris, France. ⟨hal-03994357⟩
  • Yves Allenbach. 256th ENMC International Workshop: Myositis specific autoantibodies (MSAab). 13ième Journée Interdisciplinaire du Muscle Inflammatoire, Sep 2022, Paris, France. ⟨hal-03835350⟩
  • Yves Allenbach. Quoi de neuf dans la prise en charge des dermatomyosites à anti-MDA5 sévères ?. 13ième Journée du Muscle Inflammatoire, Sep 2022, Paris, France. ⟨hal-03835354⟩
  • Mariko Okubo, Astrid Brull, Maud Beuvin, Nathalie Mougenot, Gisèle Bonne, et al.. Gene therapy for striated muscle laminopathies. European Network for Laminopathies Meeting, Sep 2022, Bologna, Italy. ⟨hal-04003052⟩
  • Gisèle Bonne. Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD). European Network for Laminopathies Meeting, Sep 2022, Bologna, Italy. ⟨hal-03984504⟩
  • Piera Smeriglio. Epigenetics in Spinal Muscular Atrophy. 7th International Congress of Myology, Sep 2022, Nice, France. ⟨hal-04002818⟩
  • Massiré Traoré. Therapeutic approach based on GDF5 to counteract age-related muscle wasting. Myology 2022, AFM-TELETHON, Sep 2022, Nice, France. ⟨hal-03997646⟩
  • Massiré Traoré. Therapeutic approach based on GDF5 to counteract age-related muscle wasting. Myology 2022, AFM-TELETHON, Sep 2022, Nice, France. ⟨hal-04001213⟩
  • Lorenzo Giordani, Chiara D’ercole, Paolo D’angelo, Veronica Ruggieri, Daisy Proietti, et al.. Spatially resolved transcriptomics reveals innervation-responsive functional clusters in skeletal muscle. INTERNATIONAL CONFERENCE ON MUSCLE WASTING - Molecular mechanisms of muscle growth and wasting in health and disease, Sep 2022, Ascona, Switzerland. ⟨hal-04019261⟩
  • Olivier Benveniste. Inflammatory Myopathies and Innovative Therapies. TMA’s Annual Patient Conference, Sep 2022, Orlando, United States. ⟨hal-03864169⟩
  • Mariko Okubo, Astrid Brull, Isabelle Nelson, Maud Beuvin, Laura Julien, et al.. Gene therapy for striated muscle laminopathy. 12th French-Japanese Workshop on Neuromuscular Diseases, Gisèle Bonne; Ichizo Nishino, Sep 2022, Giverny, France. ⟨hal-03989233⟩
  • France Piétri‐rouxel. GDF5 therapeutic potential for Duchenne Muscular Dystrophy gene therapy optimization. 12th Japanese-French Workshop “New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology”, Gisèle Bonne, Sep 2022, Giverny, France. ⟨hal-04000417⟩
  • Lorenzo Giordani, Cecile Peccate, Chiara D’ercole, Vaarany Karunanuthy, Cecile Bertholle, et al.. Multimodal Single Cell profiling of Duchenne Muscular Dystrophy. 12th Japanese-French Workshop - New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology, Sep 2022, Giverny, France. ⟨hal-04019299⟩
  • Dm Dinca, So Braz, Louison Lallemant, A Gonzalez-Barriga, B Potier, et al.. Glial cell dysfunction in myotonic dystrophy brain disease. 12th Japanese-French Workshop: New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology, Sep 2022, Giverny, France. ⟨hal-04004421⟩
  • Alexandra Bayer Wildberger, Natalia Pinzon, Axel You, Frédérique Truffault, Aurélien Corneau, et al.. Cell therapy approaches for Myasthenia gravis: in vitro and in vivo evaluations of conditioned mesenchymal stem cells. 12th Japanese-French Workshop, Sep 2022, Giverny, France. ⟨hal-03824310⟩
  • Yves Allenbach. Q/A with medical advisory board breakouts - myotoxicity. 2022 International Annual Patient Conference, Sep 2022, Orlando, United States. ⟨hal-03834288⟩
  • Yves Allenbach. Acute ILD MdA5. 15th International Congress on lung transplantation, Sep 2022, Paris, France. ⟨hal-03834287⟩
  • Mona Bensalah, Laura Muraine, Alexis Boulinguiez, Lorenzo Giordani, Victorine Albert, et al.. A negative feedback loop between fibroadipogenic progenitors and muscle fibres involving endothelin promotes human muscle fibrosis. 12th French-Japanese workshop, Sep 2022, Giverny, France. ⟨hal-04011411⟩
  • Mona Bensalah, Laura Muraine, Alexis Boulinguiez, Lorenzo Giordani, Victorine Albert, et al.. Muscle fibrosis: a vicious circle between human fibroadipogenic progenitors and muscle fibers. Myology 2022, Sep 2022, Nice, France. ⟨hal-04011420⟩
  • Julia Pereira Lemos. The thymus in the pathogenesis/ pathophysiology of Amyotrophic Lateral Sclerosis. 17th International Congress on Neuromuscular Diseases, Jul 2022, Bruxelles, Belgium. ⟨hal-04002792⟩
  • Piera Smeriglio. Epigenetic modifications in Spinal muscular atrophy. 17th International Congress on Neuromuscular Diseases, Jul 2022, Bruxelles, Belgium. ⟨hal-04002781⟩
  • Mário Gomes-Pereira, Arnaud F Klein. Myotonic dystrophy type 1: from DNA repeat expansion and toxic RNA to the development of new therapeutic approaches. European reference network for rare and low prevalence complex diseases, Jul 2022, Webinar, France. ⟨hal-04007414⟩
  • Olivier Benveniste. Treatment Options for Idiopathic Inflammatory Myopathies. 17th International Congress on NeuroMuscular Diseases, Jul 2022, Bruxelles, Belgium. ⟨hal-03864178⟩
  • Marc Bitoun. Pathophysiological mechanisms of the autosomal dominant centronuclear myopathy due to Dynamin 2 mutations. 17th International Congress on Neuromuscular Diseases, Jul 2022, Bruxels, Belgium. ⟨hal-03920027⟩
  • Piera Smeriglio. Biomarkers for Spinal muscular atrophy. 17th International Congress on Neuromuscular Diseases, Jul 2022, Bruxelles, Belgium. ⟨hal-04002773⟩
  • Delphine Trochet. Allele specific silencing therapy for the Dynamin 2-linked Dominant Centronuclear Myopathy. 17th International Congress on Neuromuscular Diseases, Jul 2022, Bruxels, Belgium. ⟨hal-03920014⟩
  • Valérie Allamand. Therapeutic options for premature termination codon mutations in COLVI-related dystrophies. . Cure CMD scientific and family conference, Jun 2022, Visio conference, France. ⟨hal-04029236⟩
  • Mariko Okubo, Astrid Brull, Maud Beuvin, Gisèle Bonne, Anne T Bertrand. Development of gene therapy for striated muscle laminopathy. Cure CMD scientific and family conference, Jun 2022, Nashville, United States. ⟨hal-04004853⟩
  • Piera Smeriglio. RNA biomarkers for Spinal muscular atrophy. RNA metabolism in neuromuscular disease, Jun 2022, Online, France. ⟨hal-04002812⟩
  • P. Bay, M. Pineton de Chambrun, A. Roux, V. Bunel, A. Combes, et al.. L’assistance extracorporelle en bridge à la transplantation pulmonaire en urgence pour les patients avec une atteinte pulmonaire rapidement progressive d’une dermatomyosite anti-MDA5. 84ème congrès de la SNFMI, Jun 2022, Nantes, France. pp.A122, ⟨10.1016/j.revmed.2022.03.320⟩. ⟨hal-03834086⟩
  • P. Bay, M. Pineton de Chambrun, V. Rothstein, M. Mahevas, A. Roux, et al.. Les échanges plasmatiques ne semblent pas être associés à un meilleur pronostic chez les patients avec une atteinte pulmonaire rapidement progressive d’une dermatomyosite anti-MDA5. 84ème congrès de la SNFMI, Jun 2022, Nantes, France. pp.A99-A100, ⟨10.1016/j.revmed.2022.03.288⟩. ⟨hal-03834088⟩
  • Yu-Chih Tsai, Laure de Pontual, Chéryl Heiner, Tanya Stojkovic, Denis Furling, et al.. Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing. FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada. ⟨hal-04004408⟩
  • Laure de Pontual, Antoine Mangin, Sonia Lameiras, Bin Yang, Tina Alaeitabar, et al.. Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1. FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada. ⟨hal-04004392⟩
  • Gisèle Bonne. Discussion needed on how to define and select non-clinical biomarkers. 253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands. ⟨hal-03984500⟩
  • Piera Smeriglio. Deregulation of TET/5hmC axis in motor neuron diseases. Epigenetic in muscle disease workshop, Jun 2022, PARIS, France. ⟨hal-04002798⟩
  • Gisèle Bonne. Patients’ registries: present and future. 253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands. ⟨hal-03984497⟩
  • Gisèle Bonne. Striated muscle laminopathies: Modifier variants. 253rd ENMC International Workshop: Striated Muscle Laminopathies, G Bonne, S Quijano-Roy, L Maggi, C Bonnemann, Jun 2022, Hoofddorp, Netherlands. ⟨hal-03984494⟩
  • Anne T Bertrand. Current status of gene therapies development in Laminopathy. 253rd ENMC International Workshop: Striated Muscle Laminopathies, Jun 2022, Hoofddorp, Netherlands. ⟨hal-03989257⟩
  • Sestina Falcone. Therapeutic approach based on GDF5 to counteract age-related muscle wasting. 5ème Congrès de la Société de Physiologie et Biologie Intégrative (SPBI), Jun 2022, Lyon, France. ⟨hal-03998857⟩
  • Laure de Pontual, Antoine Mangin, Bin Yang, Geneviève Gourdon, Vincent Dion, et al.. Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1. International Myotonic Dystrophy consortium Meeting 13, Jun 2022, Osaka, Japan. ⟨hal-04004375⟩
  • Valérie Allamand. Therapeutic options for premature termination codon mutations in COLVI-related dystrophies. . Noelia Fundacion - Collagen VI meeting 2022, Jun 2022, Visio conference, France. ⟨hal-04029241⟩
  • Olivier Benveniste. Inclusion Body Myositis in 2022: from physiopathogenesis to clinical trials. 4th Global Conference On Myositis,, Jun 2022, Prague, Czech Republic. ⟨hal-03864190⟩
  • Sami Mensi, Olivier Benveniste, Yves Allenbach. Use of 18-FDG PET-CT in idiopathic inflammatory myopathies, a retrospective series of 93 examinations. A tool with uncertain performances. 4th Global Conference on Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03834099⟩
  • Lotta Plomp, Hortense Chassepot, Olivier Benveniste, Yves Allenbach. Immune checkpoint inhibitor -related myotoxicity: musculoskeletal and/or neuromuscular junction disorder?. 4th GLOBAL CONFERENCE ON MYOSITIS 2022 (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03834096⟩
  • Yves Allenbach. Myositis triggered by checkpoint inhibitors. 4th Global Conference On Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03832584⟩
  • Geneviève Gourdon. Overviews of mouse models for myotonic dystrophy. Seminar, Target Laboratory, Nantes, Jun 2022, Nantes (visioconférence), France. ⟨hal-04007452⟩
  • Charles Frison-Roche, Steve Cottin, Jeanne Lainé, Ludovic Arandel, Marius Halliez, et al.. MBNL loss of function in the motor unit alters neuromuscular communication. International Myotonic Dystrophy Consortium Meeting IDMC-13, International Myotonic Dystrophy Consortium, May 2022, Osaka, Japan. ⟨hal-04005805⟩
  • Ludovic Arandel, Arnaud F Klein, Frédérique Rau, Alain Sureau, Aurélien Cordier, et al.. Decoy gene therapy to reverse RNA toxicity in DM1. International Myotonic Dystrophy Consortium Meeting IDMC-13, International Myotonic Dystrophy Consortium, May 2022, Osaka, Japan. ⟨hal-03999213⟩
  • Stéphanie Tomé. How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients DNA repair. Seminar, May 2022, Cardiff / Virtual, United Kingdom. ⟨hal-04007445⟩
  • Yu-Chih Tsai, Laure de Pontual, Cheryl Heiner, T. Stojkovic, Denis Furling, et al.. Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing. PacBio users 2022, May 2022, Paris, France. ⟨hal-04004337⟩
  • Sonia Berrih-Aknin. Biomarker response to thymectomy. 14th MGFA International Conference On Myasthenia And Related Disorders, May 2022, Miami (FL), United States. ⟨hal-04008400⟩
  • Rozen Le Panse. Role of endogenous nucleic acids in interferon type 1 signature in early-onset AChR Myasthenia Gravis. 14th MGFA International Conference On Myasthenia And Related Disorders, May 2022, Miami (FL), United States. ⟨hal-04008218⟩
  • Alexandra Bayer Wildberger, Natalia Pinzon, Axel You, Frédérique Truffault, Aurélien Corneau, et al.. Conditioned Mesenchymal Stromal Cells as tools for immunomodulation in Myasthenia Gravis. 14th international MGFA Conference on Myasthenia and Related Disorders, May 2022, Miami, United States. ⟨hal-03824297⟩
  • Jose Adolfo Villegas, Nadine Dragin. Blocking IL-23 ameliorates Myasthenia Gravis. 14th MGFA International Conference On Myasthenia And Related Disorders, May 2022, Miami, United States. ⟨hal-03844191⟩
  • Yves Allenbach. les syndromes antisynthétases et MDA5. 12e colloque fribourgeois de rhumatologie, Apr 2022, Fribourg, Suisse. ⟨hal-03835085⟩
  • Mário Gomes-Pereira, Arnaud F Klein. Dystrophie myotonique: de la pathophysiologie aux approaches thérapeutiques. Société Française de Thérapie Cellulaire et Génique, Apr 2022, Webinar, France. ⟨hal-04007420⟩
  • Isabelle Nelson, German Demidov, Enzo Cohen, Aurélien Perrin, Mireille Cossée, et al.. Cold Case (Season II): TTN deletion described after CNV analyses. Solve-RD Annual Meeting 2022, Apr 2022, Virtual conference, Germany. ⟨hal-03989193⟩
  • Ryan Hum, James Lilleker, Janine Lamb, William Ollier, Guochung Wang, et al.. P222 Clinical features of extra-muscular disease in dermatomyositis and anti-synthetase syndrome patients with skin involvement classified by presence of disease-specific autoantibodies: results from the EuroMyositis registry. British Society for Rheumatology Annual Conference, BSR 2022, Apr 2022, Glasgow, United Kingdom. ⟨10.1093/rheumatology/keac133.221⟩. ⟨hal-03831256⟩
  • France Piétri‐rouxel. AAV- microDystrophin and AAV-GDF5: A combined treatment to optimize DMD gene therapy ?. EMBO 2022 Muscle formation, maintenance, regeneration and pathology, Fred Relaix, Apr 2022, Gouvieux, France. ⟨hal-04000437⟩
  • Gisèle Bonne. Striated muscle laminopathies, from gene defects to pathomechanisms and therapeutic approaches: what are we missing?. Discovering a cure for LMNA: Current strategies, crazy ideas and future collaborations, Apr 2022, Virtual conference, Netherlands. ⟨hal-03984492⟩
  • Gisèle Bonne. Identification of genetic modifiers modulating the disease severity of LMNA-Congenital Muscular Dystrophy (LMNA-CMD). MDUK Muscles Matter online seminar series Congenital muscular dystrophy (CMD), Mar 2022, Virtual conference, United Kingdom. ⟨hal-03984491⟩
  • Piera Smeriglio. Uncovering the epigenetic control of paracrine crosstalk between motor neurons and skeletal muscles in SMA. Padua days on muscle and mobility medicine, Mar 2022, Padua, Italy. ⟨hal-04002751⟩
  • Piera Smeriglio. Roundtable: ALS & Motor Neuron Diseases: what avenues for the future?. ALS and motor neuron diseases, Mar 2022, PARIS, France. ⟨hal-04002761⟩
  • Abdellah Tebani, Franklin Ducatez, Wladimir Mauhin, Agnès Boullier, Carine Pilon, et al.. Dissecting Fabry disease biological plasticity using network-based metabolic phenotyping. WORLDSymposium™ 2022, Feb 2022, San diego, United States. pp.S118, ⟨10.1016/j.ymgme.2021.11.314⟩. ⟨hal-03831262⟩
  • Piera Smeriglio. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. 254th ENMC workshop for adult SMA, Jan 2022, Online, France. ⟨hal-04002740⟩
  • Marc Bitoun. Pathophysiological mechanisms and therapy for the autosomal dominant centronuclear myopathy due to Dynamin 2 mutations. Journées de la Société Française de Myologie, 2022, Toulouse, France. ⟨hal-03875396⟩
  • Gaëlle Bruneteau. Réseau ACT4ALS-MND - Actualités et perspectives - Essais thérapeutiques. Journées nationales annuelles de la filière de santé maladies rares FILSLAN, 2022, Montpellier, France. ⟨hal-04015822⟩
  • Alexis Boulinguiez, Fanny Roth, Jamila Dhiab, Hadidja Rose Mouigni, Saskia Lassche, et al.. Status and role of PABPN1 nuclear aggregates in Oculopharyngeal Muscular Dystrophy. 19èmes Journées de la Société Française de Myologie, 2022, Toulouse, France. ⟨hal-04011442⟩
  • Ines Akrouf. Modulation of intracellular pathways involved in the AAV trafficking to optimize AAV-based therapies in Duchenne muscular dystrophy and autosomal dominant Centronuclear Myopathy. Journées de la Société Française de Myologie, 2022, Toulouse, France. ⟨hal-03875378⟩
  • Mona Bensalah. Muscle fibrosis: a vicious circle between human fibroadipogenic progenitors and muscle fibers. Colloque Reseau 'Cellules Souches et Medecine Regeneratrice', 2022, Paris, France. ⟨hal-04011445⟩
  • Antoine Muchir. Impact of Lamin mutations in cardiomyopathies. Conference, Workshop on the nuclear envelope, mechanobiology and rare disease, 2022, Singapore, France. ⟨hal-04000829⟩
  • Alexis Boulinguiez. Endoplasmic reticulum implication in oculopharyngeal muscular dystrophy. Club Muscle, 2022, Paris, France. ⟨hal-04011426⟩
  • Capucine Trollet. Where are we now on Oculopharyngeal muscular dystrophy? -update on protein aggregation and fibrosis. Centre d'Immunologie et des Maladies Infectieuses, 2022, Paris, France. ⟨hal-04012485⟩
  • Capucine Trollet. « Where are we now on Oculopharyngeal muscular dystrophy? ». Institut NeuroMyoGène, 2022, Lyon, France. ⟨hal-04011423⟩
  • Antoine Muchir. Le ciblage de la PARylation améliore les anomalies aortiques chez le modèle murin de la progéria d’Hutchinson-Gilford. Conference, 2022, Paris, France. ⟨hal-04000823⟩
  • Antoine Muchir. Pathogenesis of lamin A/C cardiomyopathy. Conference, Netherlands Heart Institute, 2022, Online, Netherlands. ⟨hal-04000816⟩
  • Antoine Muchir. Modulating Cytoskeleton Dynamics to Treat Cardiomyopathy Caused by LMNA Mutations. Conference, Gordon Research Conference, 2022, Mount Snow, France. ⟨hal-04000832⟩
  • Negroni Elisa. Cellular and moleculars actors of human muscular fibrosis in muscular disorders. 19èmes Journées de la Société Française de Myologie, 2022, Toulouse, France. ⟨hal-04011428⟩
  • Strochlic Laure. Wnt signaling in Myasthenia. Guarda meeting on the neuromuscular junction, 2022, Guarda, Switzerland. ⟨hal-04002946⟩
  • Pierre Bay, Marc Pineton de Chambrun, Vincent Rothstein, Matthieu Mahevas, Nicolas de Prost, et al.. Plasma exchange are not associated with better outcome in MDA5 rapidly-progressive interstitial lung disease. French Intensive Care Society International Congress 2022, 2022, paris, France. pp.54, ⟨10.1186/s13613-022-01016-6⟩. ⟨hal-03831253⟩
  • Cadot Bruno. Nucleus-cytoskeletons connections in muscle. Merlion Workshop, 2022, Singapour, Singapore. ⟨hal-03946252⟩
  • Antoine Muchir. Microtubule modifications in cardiomyopathy caused by A-type lamins mutations. Conference, 36th Annual Meeting of the International Society for Heart Research (European Section), 2022, Online, France. ⟨hal-04000838⟩
  • S. Mensi, H. Chassepot, D. Kharroubi, L. Plomp, B. Abbar, et al.. Valeur diagnostique de la TEP-TDM au 18-FDG dans les myosites secondaires aux inhibiteurs de point de contrôle immunitaires. 83ème congrès de la SNFMI, Dec 2021, Paris, France. pp.A267-A268, ⟨10.1016/j.revmed.2021.10.207⟩. ⟨hal-03834079⟩
  • J. Demortier, M. Vautier, O. Chosidow, L. Gallay, D. Bessis, et al.. Dermatomyosite à anticorps anti-SAE: étude descriptive et comparative à un groupe de dermatomyosites SAE-négatives. 83ème congrès de la SNFMI, Dec 2021, Paris, France. pp.A264, ⟨10.1016/j.revmed.2021.10.202⟩. ⟨hal-03834077⟩
  • S. Mensi, P. Daniel, D. Kharroubi, Yves Allenbach, A. Kas, et al.. Emploi de la TEP-TDM au 18-FDG dans les myopathies inflammatoires, description rétrospective sur une série de 93 examens, un outil aux performances encore incertaines. 83ème congrès de la SNFMI8, Dec 2021, Paris, France. pp.A266-A267, ⟨10.1016/j.revmed.2021.10.206⟩. ⟨hal-03834084⟩
  • L. Bolko, S. Louis-Leonard, L. Kanagaratnam, C. Pineau, C. Anquetil, et al.. Précision diagnostique de l’électroneuromyogramme dans les myosites. 83ème congrès de la SNFMI, Dec 2021, Paris, France. pp.A265-A266, ⟨10.1016/j.revmed.2021.10.204⟩. ⟨hal-03834082⟩
  • A. Chaudier, Yves Allenbach, A. Mekinian, C. Richez, M.E. Truchetet, et al.. Tolérance et efficacité des thérapies ciblées prescrites dans des indications hors AMM au cours des maladies auto-immunes systémiques réfractaires : données des 100 premiers patients inclus dans le registre TATA (TArgeted Therapy in Auto-immune Diseases). 83e Congrès de la SNFMI, Dec 2021, Paris, France. pp.A407, ⟨10.1016/j.revmed.2021.10.119⟩. ⟨hal-03834090⟩
  • Yves Allenbach, G. Mercy, J.F. Deux, F. Foissac, Y. Schoindre, et al.. Performances de l’IRM musculaire pour le diagnostic des myopathies auto-immunes : étude prospective multicentrique (DARWIM). 83ème congrès de la SNFMI, Dec 2021, Paris, France. pp.A266, ⟨10.1016/j.revmed.2021.10.205⟩. ⟨hal-03834081⟩
  • K. Gourbeyre-Masson, O. Benveniste, B. Colombe, Yves Allenbach, N. Terzi, et al.. Profil et pronostic des myopathies inflammatoires en unité de soins intensifs: une étude rétrospective et multicentrique. 83ème congrès de la SNFMI, Dec 2021, Paris, France. pp.A265, ⟨10.1016/j.revmed.2021.10.203⟩. ⟨hal-03834072⟩
  • H. Chassepot, L. Plomp, S. Mensi, D. Psimaras, M. Touat, et al.. Myotoxicité liée aux inhibiteurs de points de contrôle immunitaire: trouble de l’appareil musculaire et/ou de la jonction neuromusculaire?. 83ème congrès de la SNFMI, Dec 2021, Paris, France. pp.A269, ⟨10.1016/j.revmed.2021.10.209⟩. ⟨hal-03834073⟩
  • P. Breillat, K. Mariampillai, P. Martins, P. Legendre, B. Dunogué, et al.. Spectre clinique et pronostic des connectivites à anti PM-Scl ; une étude multicentrique incluant 128 patients. 83ème congrès de la SNFMI, Dec 2021, Paris, France. pp.A91-A92, ⟨10.1016/j.revmed.2021.03.316⟩. ⟨hal-03834083⟩
  • J.E. Gottenberg, A. Chaudier, Yves Allenbach, A. Mékinian, C. Richez, et al.. Tolérance et efficacité des thérapies ciblées prescrites hors AMM au cours des maladies auto-immunes systémiques réfractaires : données des 100 premiers patients inclus dans le registre TATA (TArgeted Therapy in Autoimmune Diseases). 34e Congrès français de la SFR, Dec 2021, Paris, France. pp.A54, ⟨10.1016/j.rhum.2021.10.081⟩. ⟨hal-03834093⟩
  • Geneviève Gourdon. Overviews of mouse models for myotonic dystrophy. Seminar, Askbio, Dec 2021, Web Conference, United States. ⟨hal-04007474⟩
  • Laure de Pontual, Antoine Mangin, Bin Yang, Geneviève Gourdon, Vincent Dion, et al.. Identification de nouveaux facteurs de contractions CTG dans la DM1. 18ème Journées de la Société Française de Myologie (JSFM), Nov 2021, Saint Etienne, France. ⟨hal-04004288⟩
  • Piera Smeriglio. Neurofilaments as biomarkers for Spinal Muscular Atrophy. Fondation Garches annual meeting, Nov 2021, PARIS, France. ⟨hal-04002720⟩
  • Gisèle Bonne. The Treatabolome flags treatable genes and variants: an emerging concept. ERN-Euro-NMD-Eurordis CETF symposium, Nov 2021, Virtual conference, France. ⟨hal-03984489⟩
  • Jose Adolfo Villegas, Sonia Berrih-Aknin, Rozen Le Panse, Nadine Dragin. Monoclonal antibody anti -IL-23 ameliorates neuromuscular defects in Myasthenia Gravis mouse model. 15th ISNI ( International Society of Neuroimmunology ) Congress, Nov 2021, virtual, France. ⟨hal-03844130⟩
  • Alexandra Bayer Wildberger, Natalia Pinzon, Axel You, Frédérique Truffault, Aurélien Corneau, et al.. Conditioned Mesenchymal Stromal Cells as tools for immunomodulation in Myasthenia Gravis. 15th Congress of the International Society of NeuroImmunology, Nov 2021, Virtual congress, France. ⟨hal-03440270⟩
  • Stéphane Vassilopoulos. Mecanobiology, mecanotransduction. Clathrin plaques as mechanotransducing platforms. MiFoBio2021, Nov 2021, Presqu’île de Giens, France. ⟨hal-03920065⟩
  • Charles Frison-Roche, Julien Messéant, Jeanne Lainé, Ludovic Arandel, Mégane Lemaitre, et al.. MBNL loss of function in motoneurons leads to motor unit dysfunction in myotonic dystrophy. Journées de la Société Française de Myologie, Société Française de Myologie, Nov 2021, Saint-Etienne, France. ⟨hal-03999311⟩
  • Laura Muraine, Mona Bensalah, Jean Lacau St Guily, Aurélien Corneau, Gillian S. Butler-Browne, et al.. Muscle fibrosis: a vicious circle between human fibroadipogenic progenitors and muscle fibers. 18èmes Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France. ⟨hal-04011352⟩
  • Fanny Roth, Alexis Boulinguiez, Jamila Dhiab, Negroni Elisa, Vincent Mouly, et al.. Targeting UPR to resolve aggresome accumulation in OPMD muscle. 18èmes Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France. ⟨hal-04011367⟩
  • Gisèle Bonne. Molecular pathophysiological mechanisms of Cardiac Laminopathies. British Heart Fondation Centre virtual 2021 Symposium, Nov 2021, Virtual conference, United Kingdom. ⟨hal-03984487⟩
  • Gisèle Bonne. Striated muscle of Laminopathies, Scientific advances for the development of treatments. LMNACardio Foundation meeting, Oct 2021, Virtual conference, Netherlands. ⟨hal-03984485⟩
  • A Atalaia, C Hernandez Ferrer, A Corvó, L Matalonga, R Thompson, et al.. The Treatabolome flags treatable genes and variants: an emerging concept. ERN Euro-NMD Webinar on Treatabolome, Oct 2021, Webinar, Germany. ⟨hal-03989142⟩
  • Olivier Benveniste. Actual landscape of (auto-immune) inflammatory myopathies. Portuguese Congress of Neuromuscular Disorders, Oct 2021, NA, Portugal. ⟨hal-03831945⟩
  • Olivier Benveniste. The Rapamycin Study for IBM. 2021 Muscle Study Group Scientific Annual Meeting, Oct 2021, NA, United States. ⟨hal-03831935⟩
  • Yves Allenbach. Myosite et IRM musculaire. 13éme édition du JIMI (Journée Interdisciplinaire du Muscle Inflammatoire), Sep 2021, Paris, France. ⟨hal-03835505⟩
  • Yves Allenbach. What's new in Myositis ?. German Rheumatology Congress (virtual), Sep 2021, Berlin, Germany. ⟨hal-03834281⟩
  • Piera Smeriglio. Intercepting OA disease progression by modulating the epigenetic profile via TET1 inhibition. 29th European Orthopedic Research Society, Sep 2021, Rome, Italy. ⟨hal-04002708⟩
  • Sanzana Hoque, Rana Soylu Kucharz, Valérie Allamand, Marie Sjögren, Kinga Gawlik, et al.. Assessment of muscle regeneration in the R6/2 mouse model of huntington’s disease. Meeting of the European-Huntington's-Disease-Network (EHDN), Sep 2021, ELECTR NETWORK, Sweden. pp.A8.2-A8, ⟨10.1136/jnnp-2021-EHDN.19⟩. ⟨hal-03867574⟩
  • Eveline Van Gompel, Catia Cerqueira, Begum Horuluoglu, Angeles Shunashy Galindo- Feria, Karine Chemin, et al.. Anti-MDA5 autoantibodies in myositis patients specifically target the Helicase domains of the MDA5 protein. 6th European Congress of Immunology virtual, Sep 2021, Nottingham, United Kingdom. ⟨hal-03831292⟩
  • Gisèle Bonne. History and discovery of Laminopathy , Scientific advances for the development of treatments. Symposium on Rare Diseases in Puerto Rico from the Capitol, Jul 2021, Virtual conference, Puerto Rico. ⟨hal-03984484⟩
  • Olivier Benveniste. Inflammatory myopathies: advocating better classification and care. Seminar of the Swiss Rheumatology Academia, Jun 2021, NA, Switzerland. ⟨hal-03831924⟩
  • Stéphanie Tomé, Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, et al.. How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patient. Expanded repeat disorders: from mechanisms to therapies, Jun 2021, Cardiff, United Kingdom. ⟨hal-04004237⟩
  • Laure de Pontual, Antoine Mangin, Bin Yang, Geneviève Gourdon, Vincent Dion, et al.. Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1. Expanded repeat disorders: from mechanisms to therapies, Jun 2021, Cardiff, United Kingdom. ⟨hal-04004162⟩
  • Rabah Ben Yaou. Emery-Dreifuss disease and related disorders. XXII Forum of Neuromuscular diseases of the Scientific Department of Neuromuscular Diseases of the Brazilian Academy of Neurology, Jun 2021, Virtual conference, Brazil. ⟨hal-03988621⟩
  • Stéphanie Tomé. How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients. PacBio Users, Jun 2021, Web Conference, United States. ⟨hal-04007462⟩
  • Olivier Benveniste. Clinical diagnostic aspects in myositis. 12th European Congress of Neuropathology virtual, May 2021, Copenhague, Denmark. pp.217-241, ⟨10.5414/NPP40217⟩. ⟨hal-03831288⟩
  • Céline Anquetil, Olivier Benveniste, Javid J. Moslehi, Douglas B. Johnson, Bénédicte Lebrun-Vignes, et al.. immune checkpoint inhibitor-induced myositis, the earliest and most lethal complication amongst rheumatic and musculoskeletal toxicities. 12th International congress on Autoimmunity virtual, May 2021, Athènes, Greece. ⟨hal-03834293⟩
  • Jose Adolfo Villegas, Sonia Berrih-Aknin, Rozen Le Panse, Nadine Dragin. Blocking the IL-23/Th17 pathway ameliorates myasthenia gravis symptoms in autoimmune myasthenia gravis mouse model. 12th international congress on autoimmunity, May 2021, virtual, France. ⟨hal-03844107⟩
  • Olivier Benveniste. Inflammatory Autoimmune Myopathies. 16th International Congress on Neuromuscular Diseases (ICNMD202), May 2021, Valencia, Spain. ⟨hal-03831903⟩
  • Gisèle Bonne. LMNA (Laminopathy) Research. Cure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States. ⟨hal-03984482⟩
  • Gisèle Bonne. Solve-RD: Un projet Européen visant à réduire l’errance diagnostique. Eunjeux et Défis de la Recherche dans les Maladies Rares - Fondation Malaides Rares, May 2021, Conference - Online., France. ⟨hal-03984480⟩
  • Mário Gomes-Pereira. Astrocytes, the unusual suspects in myotonic dystrophy. Seminar, Institute for Stem Cell and Exploration of Monogenic Diseases (I-STEM), May 2021, Evry, France. ⟨hal-04007468⟩
  • Mário Gomes-Pereira. Myotonic dystrophy: Toxic RNA and glia cell disease. Seminar, Radboud University, May 2021, Radboud, Netherlands. ⟨hal-04007513⟩
  • C. Hernandez-Ferrer, A. Corvó, L. Matalonga, R. Thompson, L. Carmody, et al.. Treatabolome database: towards enhancing Rare Diseases’ treatment visibility. Solve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany. ⟨hal-03988747⟩
  • Isabelle Nelson, Enzo Cohen, Rabah Ben Yaou, France Leturq, Juliette Nectoux, et al.. Cold Case: Patient with only one CAPN3 variant. Solve-RD Annual Meeting 2021, Apr 2021, Virtual conference, Germany. ⟨hal-03988006⟩
  • Laure de Pontual, Geneviève Gourdon, Stephanie Tome. Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1. Société Française de Myologie (SFM), Jan 2021, Paris, France. ⟨hal-04003579⟩
  • Rozen Le Panse. Early onset and Juvenile Myasthenia Gravis. 16th International Congress on Neuromuscular Diseases (ICNMD 2021), 2021, Valencia (Virtual), Spain. ⟨hal-03861656⟩
  • Cloé Payet. Study of interferon type I signature in autoimmune Myasthenia Gravis. 12th International Congress on Autoimmunity, 2021, Athènes (Virtual), Greece. ⟨hal-03861863⟩
  • Strochlic Laure. GSK3-beta inhibition for therapy of CMS. 35th ENMC International Workshop on Congenital myasthenic syndromes, 2021, Par visioconférence, Netherlands. ⟨hal-04015990⟩
  • Gaëlle Bruneteau. Essais thérapeutiques en cours : consortium ACT4ALS-MND. Journées nationales annuelles de la filière de santé maladies rares FILSLAN-eJNA, 2021, Par visioconférence, France. ⟨hal-04015835⟩
  • Laura Muraine, Mona Bensalah, Jean Lacau St Guily, Aurélien Corneau, Gillian S. Butler-Browne, et al.. Muscle fibrosis: a vicious circle between human fibroadipogenic progenitors and muscle fibers. British Society for Matrix Biology online Spring meeting, 2021, Virtual, France. ⟨hal-04011396⟩
  • Capucine Trollet. OPMD: agregats and stem cell dysfunction. 1º Simpósio Brasileiro de Biologia Muscular, 2021, Virtual conference, France. ⟨hal-04011389⟩
  • Rozen Le Panse. Etiological and Pathophysiological Mechanisms in Myasthenia Gravis. 15th International Congress of Neuroimmunology (ISNI), 2021, Nice (Virtual), France. ⟨hal-03861666⟩
  • Laura Muraine, Ludovic Gaut, Mona Bensalah, Gillian S. Butler-Browne, Vincent Mouly, et al.. Intercellular communication in fibrotic and aged human skeletal muscle. Workshop « Inflamaging and Regeneration: Pain or Partnership? », 2021, Virtual conference, France. ⟨hal-04011377⟩
  • Capucine Trollet, Gillian S. Butler-Browne. Therapeutic approaches for oculopharyngeal muscular dystrophy: where are we now?. Padua Days of Muscle and Mobility Medicine, 2021, Virtual conference, France. ⟨hal-04011383⟩
  • Geneviève Gourdon. Overviews of mouse models for myotonic dystrophy. Seminar, Biogen, 2021, Web Conference, United States. ⟨hal-04007479⟩
  • Geneviève Gourdon. Overviews of mouse models for myotonic dystrophy. Seminar, Bayer AG, Jan 2021, Web Conference, Germany. ⟨hal-04007484⟩
  • Geneviève Gourdon, Stéphanie Tomé. How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients. Seminar, PacBio Neuroscience day, Dec 2020, Web Conference, United States. ⟨hal-04007488⟩
  • Stéphanie Tomé, Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, et al.. How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients. Neuroscience PacBio day 2020, Dec 2020, Paris, France. ⟨hal-04004354⟩
  • Anne T Bertrand, Astrid Brull, Feriel Azibani, Ludovic Arandel, Gisèle Bonne. Gene therapy for LMNA-related congenital muscular dystrophy. Cure CMD scientific and family conference, Nov 2020, Virtual conference, United States. ⟨hal-04004849⟩
  • Olivier Benveniste. Inflammatory myopathies and lung involvement. Mayo Clinic virtual symposium on Autoimmunity and the Lung, Nov 2020, Orlando, United States. ⟨hal-03831916⟩
  • Yves Allenbach. Myosites et Jak inhibiteurs. De l’immunopathologie aux biothérapies : Actualités et Controverses, Nov 2020, Paris, France. ⟨hal-03834274⟩
  • Charles Frison-Roche, Julien Messéant, Ludovic Arandel, Mégane Lemaitre, Jeanne Lainé, et al.. MBNL loss of function in motoneurons and motor unit dysfunction in myotonic dystrophy. RNA virtual.. but so real !, Sorbonne Université, Nov 2020, Vidéo, France. ⟨hal-03999245⟩
  • Yves Allenbach. Myotoxicité. ISNI 2020 - 15E CONGRÈS DE LA SOCIÉTÉ INTERNATIONALE DE NEURO IMMUNOLOGIE, Nov 2020, Nice, France. ⟨hal-03834279⟩
  • Delamare Marine. Development and characterization of in vitro models to test the efficiency of gene therapy approaches for SOD1-linked ALS. JR6 FILSLAN-ARSLA, Oct 2020, Online, France. ⟨hal-04002675⟩
  • Marisa Cappella. AAV-mediated expression of antisense oligonucleotides for the treatment of C9ORF72-ALS. JR6 FILSLAN-ARSLA, Oct 2020, Online, France. ⟨hal-04002598⟩
  • Olivier Benveniste. Inflammatory Myopathies: Issues in diagnosis and management. Virtual Agrim Neurology Update 2020, Oct 2020, NA, France. ⟨hal-03831909⟩
  • Gisèle Bonne. Actions Recherche. Journée de la Filière en Santé Maladies Neuromusculaire Rares, Filnemus, Oct 2020, Conference - Online., France. ⟨hal-03984478⟩
  • Yves Allenbach. Atteinte cardiaque des myosites. Carrefour des spécialités -Médecine interne et Cardiologie, Oct 2020, Paris, France. ⟨hal-03834283⟩
  • Yves Allenbach. Muscle inflammatoire. Rencontres en Immunologie et immunothérapie pratiques, Sep 2020, Paris, France. ⟨hal-03832602⟩
  • Yves Allenbach. Flash Talks : quoi de neuf dans les myopathies inflammatoires ?. RENCONTRES EN IMMUNOLOGIE ET IMMUNOTHERAPIE PRATIQUES - RIIP 2020, Sep 2020, Paris, France. ⟨hal-03834273⟩
  • R. Villar Quiles, S. Donkevoort, A. de Becdelievre, V. Allamand, V. Jobic, et al.. Clinical and molecular spectrum associated with COL6A3 c.7447A>G variant: elucidating its role in Collagen VI-related myopathies. 25th International Congress of the World-Muscle-Society (WMS), Sep 2020, ELECTR NETWORK, France. pp.S105-S106, ⟨10.1016/j.nmd.2020.08.202⟩. ⟨hal-03867614⟩
  • E. Cohen, I. Nelson, C. Gartioux, M. Beuvin, Z. Mezdari, et al.. Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy. 25th International Congress of the World-Muscle-Society (WMS), Sep 2020, ELECTR NETWORK, France. pp.S47, ⟨10.1016/j.nmd.2020.08.007⟩. ⟨hal-03867603⟩
  • Gisèle Bonne. Solved-RD WP3 progress update. Solve-RD Annual Steering Committee Meeting, Sep 2020, Virtual Conference, Germany. ⟨hal-03984472⟩
  • Yves Allenbach. Myocardites : Quel bilan ? quelles étiologies?. Rencontre TUC - GIHP et GACI, Sep 2020, Paris, France. ⟨hal-03835081⟩
  • Gisèle Bonne. The Concept of Treatabolome. ESHG 2020.2 - European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom. ⟨hal-03984475⟩
  • E Cohen, I Nelson, C Gartioux, M Beuvin, Z Mezdari, et al.. Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy. New Directions in Skeletal Muscle Biology, Jun 2020, Virtual conference (Covid), United States. ⟨hal-04004866⟩
  • Olivier Benveniste. Myositis, new treatment options. EULAR 2020 E-Congress, Jun 2020, Berlin, Germany. ⟨hal-03831898⟩
  • Alexander Oldroyd, Paul New, Janine Lamb, William Ollier, Robert Cooper, et al.. Earlier cancer diagnosis after myositis onset is associated with improved long term survival: results from UK, French and Czech cohorts. 2020 Annual Conference of the British Society for Rheumatology, BSR 2020, Apr 2020, Glasgow, United Kingdom. ⟨10.1093/rheumatology/keaa110.032⟩. ⟨hal-03831704⟩
  • Yves Allenbach. Rheumatic toxicities associated with immune checkpoint inhibitors: The severity of myositis. NIH-AACR CANCER, AUTOIMMUNITY, AND IMMUNOLOGY CONFERENCE, Mar 2020, Bethesda, United States. ⟨hal-03834267⟩
  • Antonio Atalaia, Gisèle Bonne. WP3 Task 3. Treatabolome. Solve-RD Annual Meeting, Mar 2020, Barcelona, Spain. ⟨hal-03986988⟩
  • Gisèle Bonne. Laminopathy of the striated muscle: from the gene defects to therapeutic approaches. Invited Seminar by Prof I Perez at Unidad de Terapia Génica, Instituto de Investigación de Enfermedades Raras, Feb 2020, Madrid, Spain. ⟨hal-03984464⟩
  • Soumeya Bekri, Lénaig Abily-Donval, Wladimir Mauhin, Celine Lesueur, Olivier Benveniste, et al.. Predictive biological patterns in Fabry disease revealed by integrative omics machine learning analysis. WORLDSymposium™ 2020, Feb 2020, Orlando, United States. pp.S29, ⟨10.1016/j.ymgme.2019.11.047⟩. ⟨hal-03831698⟩
  • Piera Smeriglio. pNfH is a reliable biomarker for adult SMA patients’ follow-up upon nusinersen treatment. SMA Europe, Feb 2020, EVRY, France. ⟨hal-04002702⟩
  • Enzo Cohen, Isabelle Nelson, Corine Gartioux, Maud Beuvin, Zaineb Mezdari, et al.. Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathy. ASSISES DE GÉNÉTIQUE HUMAINE ET MÉDICALE, Jan 2020, Tours, France. ⟨hal-03986985⟩
  • Olivier Benveniste. Inflammatory Myopathies. The importance of being well classified!. . Departments of Neurology and Physiology and Biophysics (and the Institute of Immunology)., Jan 2020, Irvine, United States. ⟨hal-03831886⟩
  • Capucine Trollet. OPMD: agregats and stem cell dysfunction. Muscle SCience Talk, 2020, Virtual conference, France. ⟨hal-04011311⟩
  • Gaëlle Bruneteau. Réseau national de recherche clinique dans la SLA et les maladies du motoneurone. Journées nationales annuelles de la filière de santé maladies rares FILSLAN – eJNA, 2020, Par visioconférence, France. ⟨hal-04015843⟩
  • Yves Allenbach. Imagerie et explorations innovantes au cours des myopathies auto-immunes. 80ieme Congrès de la SNFMI, Dec 2019, Limoges, France. pp.A27-A29, ⟨10.1016/j.revmed.2019.10.340⟩. ⟨hal-03834254⟩
  • S. Presente, C. Allonier, P. Rufat, N. Champtiaux, A. Rigolet, et al.. Pronostic des patients hospitalisés en médecine interne après passage aux urgences : le rôle du médecin généraliste. 80ème congrès de la SNFMI, Dec 2019, Limoges, France. ⟨hal-03834045⟩
  • L. Bolko, K. Didier, S. Toquet, A. Servettaz, N. Champtiaux, et al.. Signification pronostique du titre d’anticorps anti-Jo1 au cours du syndrome des anti-synthétases. 80ème congrès de la SNFMI, Dec 2019, Limoges, France. ⟨hal-03834050⟩
  • S. Toquet, B. Granger, Y. Uzunhan, G. Leroux, R. Paule, et al.. La dermatomyosite associée à l’anticorps anti-MDA5 est une maladie saisonnière : un argument pour un facteur déclenchant viral. 80ème congrès de la SNFMI, Dec 2019, Limoges, France. ⟨hal-03834042⟩
  • B. Salvador, A. Cypierre, Yves Allenbach, E. Liozon, A.L. Fauchais, et al.. Amylose AL : une autre grande simulatrice. 80ème congrès de la SNFMI, Dec 2019, Limoges, France. ⟨hal-03834054⟩
  • C. Anquetil, J.E. Salem, A. Manouchehri, O. Lambotte, B. Lebrun-Vignes, et al.. Phénotype et pronostic des atteintes systémiques induites sous inhibiteurs de check-points immunitaires. 80ème congrès de la SNFMI, Dec 2019, Limoges, France. ⟨hal-03834068⟩
  • Yves Allenbach. De l’immunologie à la pratique : les auto-anticorps au coeur des myopathies auto-immunes. Journée Immunosemm, Nov 2019, Paris, France. ⟨hal-03835074⟩
  • Yves Allenbach. Myopathies inflammatoires (hors myosite à inclusion) : quels traitements fondés sur des preuves ?. Deuxième journée nationale d’ophtalmologie et de médecine interne fondée sur des preuves, Nov 2019, Paris, France. ⟨hal-03834252⟩
  • Yves Allenbach. Une face sombre de l’immunothérapie en cancérologie : la toxicité musculaire. 17èmes Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03834264⟩
  • Eline Lemerle. Role of caveolae in skeletal muscle function and pathophysiology of caveolinopathies. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03921779⟩
  • Catherine Coirault. Mechanobiology of skeletal muscle in LMNA-related congenital muscular dystrophy. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03926331⟩
  • Stéphane Vassilopoulos. Ultrastructure des cellules musculaires. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03921766⟩
  • Catherine Coirault. Mechanobiology of skeletal muscle in muscular diseases. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03944510⟩
  • Sestina Falcone. An embryonic CaVβ1 isoform promotes muscle mass maintenance via GDF5 signaling in adult mouse.. 17ème Journée de la societé française de myologie 2019, Nov 2019, Marseille (FR), France. ⟨hal-04001941⟩
  • Harmen Reyngoudt, Benjamin Marty, Jean-Marc Boisserie, Julien Le Louër, Cedi Koumako, et al.. Can global muscle segmentation detect changes in neuromuscular disorders using quantitative nuclear magnetic resonance imaging?. Imaging in Neuromuscular Disease 2019: Second International Conference on Imaging in Neuromuscular Disease, Nov 2019, Berlin, Germany. pp.S1-S62, ⟨10.3233/JND-199002⟩. ⟨hal-03831354⟩
  • A Gonzalez-Barriga, D Dinca, So Braz, Geneviève Gourdon, Mário Gomes-Pereira. Real-time monitoring of brain cell models for neuromuscular and neurodegenerative disorders. Incucyte User Meeting, Nov 2019, Paris, France. ⟨hal-04003539⟩
  • Céline Anquetil, Olivier Benveniste, Douglas Johnson, Bénédicte Lebrun-Vignes, Joe-Elie Salem, et al.. Rheumatic toxicities associated with immune checkpoint inhibitors: An observational, retrospective, pharmacovigilance study. American College of Rheumatology/Association of Rheumatology Health Professionals Annual Scientific Meeting, ACR/ARHP 2019, Nov 2019, Atlanta, United States. pp.1-5420, ⟨10.1002/art.41108⟩. ⟨hal-03831676⟩
  • Stéphane Vassilopoulos. Alternative splicing controls clathrin assembly. 10th Imaging the Cell, Nov 2019, Lyon, France. ⟨hal-03926293⟩
  • L Pinton, D Moore, H Steele-Stallard, S Sarcar, T Ozdemir, et al.. Modelling skeletal muscle laminopathies with human iPS cells and bio-engineered skeletal muscles: Prospects for genetic therapies. ESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. pp.OR11. ⟨hal-03983924⟩
  • Geneviève Gourdon. Overview of DMSXL: pros & cons. Myotonic Annual Conference, Oct 2019, Philadelphia, United States. ⟨hal-04003513⟩
  • Mário Gomes-Pereira. Mouse models of brain disease in myotonic dystrophy. ENMC International Workshop on Myotonic Dystrophies, Oct 2019, Amsterdam, Netherlands. ⟨hal-04003506⟩
  • Geneviève Gourdon. DMSXL mice adults and neonatal features. ENMC International Workshop on Myotonic Dystrophies, Oct 2019, Amsterdam, Netherlands. ⟨hal-04003520⟩
  • M. Gomez Garcia de la Banda, D. Natera-de Benito, I. Dabaj, R. Ben Yaou, C. Ortez, et al.. Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome. 24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. pp.S141, ⟨10.1016/j.nmd.2019.06.370⟩. ⟨hal-03973469⟩
  • C. Anquetil, J. Salem, B. Lebrun-Vignes, D. Johnson, A. Mammen, et al.. Immune checkpoint inhibitor-associated myositis: a new entity with a poor prognosis. 24th International Annual Congress of the World Muscle Society (WMS), Oct 2019, Copenhague, Denmark. pp.S121, ⟨10.1016/j.nmd.2019.06.301⟩. ⟨hal-03832083⟩
  • V. Bolduc, A. Foley, H. Solomon Degefa, A. Sarathy, S. Donkervoort, et al.. A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy. 24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhague, Denmark. pp.S40-S41, ⟨10.1016/j.nmd.2019.06.028⟩. ⟨hal-03867622⟩
  • Sestina Falcone, Massiré Traoré, Christel Gentil, Chiara Benedetto, Jean-Yves Hogrel, et al.. rGdf5, an unexpected treatment against age-related muscle mass loss. 24th International Annual Congress of the World Muscle Society, Oct 2019, Copenhague, Denmark. ⟨hal-04002488⟩
  • Geneviève Gourdon. Overview of the DMSXL mouse model of DM1: From DNA repair to phenotype. Seminar, Institute of Biochemistry and Cell Biology, National Research Council, Sep 2019, Rome, Italy. ⟨hal-04007495⟩
  • Yves Allenbach. Traitements des myopathies nécrosantes:​ les recommandations de l’ENMC et les perspectives. 11 eme Journée du Interdisciplinaire du Muscle Inflammatoire, Sep 2019, Paris, France. ⟨hal-03835510⟩
  • Yves Allenbach. Immune Mediated Necortizing Myopathies and Antibodies. 14th Dresden Symposium on Autoantibodies, Sep 2019, Dresden, Germany. ⟨hal-03834251⟩
  • Gisèle Bonne. European Network for Laminopathies management: Network Activities. Satellite Meeting​ European Network for Laminopathies Meeting, Sep 2019, Kings College, London, United Kingdom. ⟨hal-03984462⟩
  • Corinne Vigouroux, Rabah Ben Yaou, Isabelle Jeru, Caroline Stalens, Olivier Lascols, et al.. LMNA-linked lipodystrophy : new insight on cardiovascular phenotypes. 9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom. ⟨hal-03986922⟩
  • Karim Wahbi, Rabah Ben Yaou, Caroline Stalens, Corinne Vigouroux, Gisèle Bonne, et al.. Risk stratification for sudden death in laminopathies. 9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom. ⟨hal-03986944⟩
  • Anne T. Bertrand. Haploinsufficiency and dominant negative effects of mutant lamin A/C contribute to the severity of L-CMD compared with EDMD. Satellite Meeting​ European Network for Laminopathies Meeting, Sep 2019, London, United Kingdom. ⟨hal-03986911⟩
  • Moulay Gilles, Lainé Jeanne, Lemaître Mégane, Bitoun Marc, Furling Denis, et al.. Revealing alternative splicing control of clathrin structural plasticity in health and disease. The physics and chemistry of endocytosis at multiple scales, EMBO, Sep 2019, Ischia, Italy. ⟨hal-04007054⟩
  • Stéphane Vassilopoulos. Alternative splicing controls clathrin assembly. EMBO Workshop, Physics and Chemistry of Endocytosis, Sep 2019, Ischia, Italy. ⟨hal-03921787⟩
  • K Wahbi, R Ben Yaou, E Gandjbakhch, F Anselme, T Gossios, et al.. New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies. Congress of the European-Society-of-Cardiology (ESC) / World Congress of Cardiology, Aug 2019, Paris, France. pp.5164. ⟨hal-03983930⟩
  • Catherine Coirault. Nuclear export of YAP requires functional LINC compexes in skeletal muscle. Nucleocytoplasmic transport. Peebles Hydro, Aug 2019, _, United Kingdom. ⟨hal-03926324⟩
  • Astrid Brull. WT lamin A/C overexpression combined with mutant lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy. Cure CMD scientific and family conference, Jul 2019, Chicago, United States. ⟨hal-03986978⟩
  • Olivier Benveniste. Myositides: the importance of being well classified, from physiopathogenesis to targeted treatments. 44th Oxford Muscle Symposium, Jul 2019, Oxfard, United Kingdom. ⟨hal-03831882⟩
  • Camille Houssais, Jean-Baptiste Noury, Yves Allenbach, Laure Gallay, Florence Assan, et al.. Myositis in patients with primary Sjögren's syndrome: data from a French nationwide survey. Annual European Congress of Rheumatology. EULAR 2019, Jun 2019, Madrid, Spain. pp.1171.1-1171, ⟨10.1136/annrheumdis-2019-eular.3474⟩. ⟨hal-03831358⟩
  • Arnaud F. Klein, Miguel A. Varela, Ludovic Arandel, Ashling Holland, Naira Naouar, et al.. Systemic Delivery of Peptide-Conjugated Antisense Oligonucleotides Leads to Long-Lasting Correction of Myotonic Dystrophy Type I. International Myotonic Dystrophy Consortium Meeting IDMC-12, International Myotonic Dystrophy Consortium, Jun 2019, Gothenburg, Sweden. ⟨hal-03998386⟩
  • Anne T Bertrand, Astrid Brull, Feriel Azibani, Monika Zwerger, Colin Stewart, et al.. Combination of haploinsufficiency and dominant negative effects of mutant lamin A/C are responsible for the increased severity of L-CMD compared with EDMD.. 11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING, Jun 2019, Turku, Finland. ⟨hal-03986896⟩
  • Astrid Brull, Isabelle Nelson, Maud Beuvin, Gisèle Bonne, Anne T. Bertrand. miRNA-processing pathway is impaired in skeletal muscle laminopathies. 11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING, Jun 2019, Turku, Finland. ⟨hal-03986899⟩
  • Gisèle Bonne. Laminopathy of the striated muscle: from the gene defects to therapeutic approaches. 11TH EUROPEAN INTERMEDIATE FILAMENT MEETING EUROIF AND COST EUROCELLNET MEETING 2019, Jun 2019, Turku, Finland. ⟨hal-03984461⟩
  • Gisèle Bonne. Laminopathy of the striated muscle: from the gene defects to therapeutic approaches. 26th Wilhelm Bernhard Workshop on the Cell Nucleus, May 2019, Dijon, France. ⟨hal-03984458⟩
  • Olivier Benveniste. Idiopathic Inflammatory Myopathies: the importance of being well classified, from physiopathogenesis to targeted treatments. 4th Neuromuscular Disorders’ Time Symposium, May 2019, Shanghai, China. ⟨hal-03831875⟩
  • Yves Allenbach. Diagnosis of inflammatory myopathies. MIRCIM 2019, May 2019, Cracovie, Poland. ⟨hal-03834255⟩
  • Stéphane Vassilopoulos. Caveolae dynamics in skeletal muscle. EMBO Workshop, Caveolae and Nanodomains, May 2019, Le Pouliguen, France. ⟨hal-03926285⟩
  • Chassagne Julie. RFX1 and RFX3 Transcription Factors Interact with the D Sequence of Adeno-Associated Virus Inverted Terminal Repeat and Regulate AAV Transduction. Congrés de la Société Française de Thérapie Cellulaire et Génique, May 2019, Paris, France. ⟨hal-03921755⟩
  • Gisèle Bonne. Laminopathy of the striated muscle: from the gene defects to therapeutic approaches. Séminaire UMR Inserm 1011 – Université Lille, Apr 2019, Lilles, France. ⟨hal-03984453⟩
  • Olivier Benveniste. Inclusion Body Myositis from physiopathogenesis to treatment. Neurology Grand Rounds, Apr 2019, Kansas City, United States. ⟨hal-03831865⟩
  • Olivier Benveniste. Recent advance in myositis classification and treatments. Myositis Regional Conference, Apr 2019, Kansas City, United States. ⟨hal-03831862⟩
  • Stéphanie Bauché. Mecanismes physiopathologiques impliqués dans les syndromes myasthéniques congénitaux. journée de Neuropédiatrie de Trousseau, Apr 2019, Paris, France. ⟨hal-03994234⟩
  • Olivier Benveniste. Inflammatory Myopathies: the importance of being well classified, from physiopathogenesis to targeted treatments. Allergy, Clinical Immunology & Rheumatology Divisional Conference, Apr 2019, Kansas City, United States. ⟨hal-03831870⟩
  • Olivier Benveniste. Mentorship & Academic Promotion: The French System. 3rd Global Conference On Myositis, Mar 2019, Berlin, Germany. ⟨hal-03831858⟩
  • Massiré Traoré. A novel Cavβ1 isoform connecting voltage sensing with muscle mass homeostasis. 6ème Congrès International de Myologie 2019, AFM-TELETHON, Mar 2019, Bordeau, France. ⟨hal-03997517⟩
  • Denis Furling. RNA-based approaches to reverse repeat expansion toxicity in Myotonic Dystrophy. 6th International Congress of Myology, AFM-Telethon, Mar 2019, Bordeaux, France. ⟨hal-04020148⟩
  • Sestina Falcone. rGdf5, an unexpected treatment against age-related muscle mass loss. Myology 2019, Mar 2019, Bordeaux (FR), France. ⟨hal-04001930⟩
  • Olivier Benveniste. New classification and targeted therapy in idiopathic inflammatory myopathies. Ninth France-Israel Symposium in Rheumatic Diseases, Feb 2019, Haifa, Israel. ⟨hal-03831855⟩
  • Gisèle Bonne. TOWARDS THERAPY: REGISTRIES, BIOBANKS, TREATABLE VARIANTS. Solve-RD Annual Meeting, Feb 2019, Radboud University Medical Center (UMC), Nijmegen,, Netherlands. ⟨hal-03984450⟩
  • Olivier Benveniste. Serology in Inflammatory Myopathies. 16th Groninger Symposium Systeemziekten, Feb 2019, Groningen, Netherlands. ⟨hal-03831852⟩
  • Jean-François Darrigrand. Over-activation of BMP signaling in neural crest cells precipitates heart outflow tract septation. meeting of the Société Française de Biologie du Développement, 2019, Paris, France. ⟨hal-03926316⟩
  • Cadot Bruno. The nuclear-cytoskeleton connection and nuclear positioning during muscle formation. Laminopathies, 2019, London, United Kingdom. ⟨hal-03926299⟩
  • Antoine Muchir. Altered cytoskeleton in cardiac disease caused by nuclear A-type lamins gene mutations. Conference, Myology, 2019, Bordeaux, France. ⟨hal-04000844⟩
  • Gillian S. Butler-Browne, Fanny Roth, Negroni Elisa, Vincent Mouly, Capucine Trollet. Muscle satellite cells from affected pharyngeal muscles of OPMD patients. 240th ENMC workshop, 2019, Amsterdam, Netherlands. ⟨10.1016/j.nmd.2019.07.003⟩. ⟨hal-04011177⟩
  • Laura Muraine, Jamila Dhiab, Mona Bensalah, Gonzalo Cordova, Alison Oliver, et al.. Transduction efficiency of AAV1 to 10 serotypes after local intramuscular injetion in mouse and in human xenograft. The European Society of Gene and Cell Therapy "Thematic day on viral vectors", 2019, Paris, France. ⟨hal-04011282⟩
  • Strochlic Laure. Regulation of neuromuscular connectivity by Wnt signaling. 6th International Congress of Myology, France, 2019, Bordeaux (France), France. ⟨hal-04002976⟩
  • Capucine Trollet. Intranuclear aggregates and muscle stem cell dysfunction in Oculopharyngeal Muscular Dystrophy. Max Delbrück Center, 2019, Berlin, Germany. ⟨hal-04011264⟩
  • Antoine Muchir. Cytoskeleton and conduction defects. Conference, GRRC, 2019, Lille, France. ⟨hal-04000841⟩
  • Gillian S. Butler-Browne, Capucine Trollet. Towards therapy for OPMD. Advances in Skeletal Muscle Biology in Health and Disease, 2019, Gainsville, United States. ⟨hal-04011190⟩
  • Rabah Ben Yaou. The Laminopathies. Journée de recherche clinique du CNMR Ile de France (Hôpital Necker Enfants Malades), Dec 2018, Paris, France. ⟨hal-03986882⟩
  • O. Landon-Cardinal, D. Bachasson, P. Guillaume-Jugnot, M. Vautier, N. Champtiaux, et al.. Évaluation de l’activité physique par accélérométrie de poignet dans le suivi des patients avec myopathies auto-immunes. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A1, ⟨10.1016/j.revmed.2018.10.381⟩. ⟨hal-03833966⟩
  • M. Peyre, N. Zahr, F. Cohen Aubart, Yves Allenbach, O. Benveniste, et al.. Utilité de la mesure de l’aire sous la courbe du Mycophénolate Mofétil chez les patients traités pour myopathies inflammatoires. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A1, ⟨10.1016/j.revmed.2018.10.381⟩. ⟨hal-03834035⟩
  • C. Anquetil, J.E. Salem, B. Lebrun-Vignes, D.B. Johnson, A.L. Mammen, et al.. Myosites induites par les Inhibiteurs de Checkpoint Immunitaires : une nouvelle myopathie auto-immune associée à une atteinte myocardique de mauvais pronostic. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A1, ⟨10.1016/j.revmed.2018.10.381⟩. ⟨hal-03834040⟩
  • M. Vautier, J. Schmidt, A. Berezne, N. Cordel, P. Duffau, et al.. Dermatomyosite et anticorps anti-SAE : des patients peu déficitaires avec un risque accru de troubles de la déglutition et de pneumopathie organisée. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A1, ⟨10.1016/j.revmed.2018.10.381⟩. ⟨hal-03834004⟩
  • C. Koumakou, O. Landon-Cardinal, B. Granger, M. Vautier, H. Reyngoudt, et al.. IRM musculaire corps entier au cours des myopathies nécrosantes auto-immunes : involution graisseuse sévère axiale et pelvi-fémorale. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A1, ⟨10.1016/j.revmed.2018.10.381⟩. ⟨hal-03833970⟩
  • Yves Allenbach. Club Médecine interne Myosite. 78ieme Congrès de la SNFMI, Dec 2018, Grenoble, France. ⟨hal-03834104⟩
  • J. Galland, M. Pha, P. Guillaume-Jugnot, N. Abisror, G. Grateau, et al.. Bienvenue au 78e congrès de la SNFMI au cœur des Alpes. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A1, ⟨10.1016/j.revmed.2018.10.381⟩. ⟨hal-03833954⟩
  • Yves Allenbach, L. Bolko, C. Anquetil, N. Wesner, D. Amelin, et al.. Dosage de l’interféron par technologie SIMOA au cours des myopathies inflammatoires idiopathiques : un biomarqueur diagnostique et d’activité. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A1, ⟨10.1016/j.revmed.2018.10.381⟩. ⟨hal-03834002⟩
  • O. Mangin, J.P. Bertocchio, S. Baron, G. Maruani, P. Houillier, et al.. Estimation du débit de filtration glomérulaire : des insuffisances rénales méconnues au cours de la myosite à inclusions. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A1, ⟨10.1016/j.revmed.2018.10.381⟩. ⟨hal-03833994⟩
  • Yves Allenbach. Classification des Myosite par les Anticorps spécifiques des myosites. 78ième Congrès de la SNFMI, Dec 2018, Grenoble, France. ⟨hal-03834105⟩
  • N. Wesner, A. Uruha, N. Costedoat-Chalumeau, A. Rigolet, Y. Schoindre, et al.. Myosites associées aux anticorps anti-RNP : un phénotype homogène avec une atteinte nécrosante de bon pronostic et des manifestations systémiques persistantes. 78e congrès de la SNFMI, Dec 2018, Grenoble, France. pp.A113, ⟨10.1016/j.revmed.2018.03.363⟩. ⟨hal-03833974⟩
  • Catherine Coirault. Mechanobiology defects in myogenic cell with nuclear envelope mutation. GDR Mécanobio, Nov 2018, Montpellier, France. ⟨hal-03944457⟩
  • Yves Allenbach. Complications auto-immunes des checkpoint inhibiteurs : le modèle des myosites et des myocardites. De l’immunopathologie aux biothérapies : Actualités et Controverses, Nov 2018, Paris, France. ⟨hal-03834249⟩
  • Yves Allenbach. Nouveaux autoanticorps, nouvelles maladies. Congrès de la SFM, Nov 2018, Brest, France. ⟨hal-03834106⟩
  • France Piétri‐rouxel. Perspectives thérapeutiques pour la myopathie de Duchenne: du rêve à la réalité. Société Française de Myologie, Société Française de Myologie, Nov 2018, Brest, France. ⟨hal-04000479⟩
  • Yves Allenbach. Traitement par inhibiteurs de JAK des formes sévères de dermatomyosite de l’adulte et de l’enfant. 2e journée du Centre de référence des maladies rhumatologiques et auto-immunes rares de l’enfant, Nov 2018, Paris, France. ⟨hal-03834244⟩
  • Anne T Bertrand. Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy. 2nd Meeting of the European Network for Laminopathies, Nov 2018, Bologna (ITALY), Italy. ⟨hal-03986767⟩
  • Yves Allenbach. Myosites : formes graves et prise en charge en réanimation. Carrefour des spécialités : médecine interne et réanimation, Nov 2018, Paris, France. ⟨hal-03834284⟩
  • Anne-Sophie Gribling-Burrer, Hassan Hayek, Vincent Cura, Martine Barkats, Jean Cavarelli, et al.. Role of the SMN complex and the methylosome in selenoprotein mRNP assembly and translation. 11th sifrARN 2018, Nov 2018, Nancy, France. ⟨hal-03548946⟩
  • Stéphane Vassilopoulos. Clathrin plaques form mecanotransduction platforms. Jacques Monod Institute Cytoskeleton meeting, Nov 2018, Paris, France. ⟨hal-03946199⟩
  • Loïs Bolko, Ségolène Toquet, Océane Landon-Cardinal, Karim Dorgham, Céline Anquetil, et al.. IFN level assessed by ultrasensitive detection technology in myositis patient: A promising biomarker of disease activity in dermatomyositis and anti-synthetase syndrome. American College of Rheumatology/Association of Rheumatology Health Professionals Annual Scientific Meeting, ACR/ARHP 2018, Oct 2018, Chicago, United States. pp.1-3584, ⟨10.1002/art.40700⟩. ⟨hal-03831328⟩
  • Céline Anquetil, Joe-Elie Salem, Benedicte Lebrun-Vignes, Douglas B Johnson, Andrew Mammen, et al.. Immune Checkpoint Inhibitor-Associated Myositis: A CharacteristicPhenotype with a Poor Outcome Related to Concomitant Myocarditis. American College of Rheumatology/Association of Rheumatology Health Professionals Annual Scientific Meeting, ACR/ARHP 2018, Oct 2018, Chicago, United States. pp.1-3584, ⟨10.1002/art.40700⟩. ⟨hal-03831343⟩
  • Yves Allenbach. Actualités sur les maladies autoimmunes - Actualités sur les myosites. Journée Maladie Auto-Immune - Kremlin Bicêtre, Oct 2018, Paris, France. ⟨hal-03835079⟩
  • Yvan De Feraudy, Rabah Ben Yaou, Karim Wahbi, France Leturcq, Helge Amthor, et al.. Residual very low dystrophin levels mitigate dystrophinopathy towards Becker muscular dystrophy. 25th International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza (Argentina), Argentina. ⟨hal-04015244⟩
  • Malek Kammoun, Vladimir Veksler, Jérôme Piquereau, Gisèle Bonne, Isabelle Nelson, et al.. KLF10 regulates skeletal muscle metabolism in mice. American Society for Bone and Mineral Research Annual Meeting, American Society for Bone and Mineral Research, Sep 2018, Montréal, Canada. ⟨hal-01981364⟩
  • Olivier Benveniste. Inflammatory Myopathies. Kongress der Deutschen Gesellschaft für Rheumatologie, Sep 2018, Mannheim, Germany. ⟨hal-03831847⟩
  • Yves Allenbach. Revue de la classification et des critères ACR/EULAR. 10 Journée Interdisciplinaire du Muscle Inflammatoire, Sep 2018, Paris, France. ⟨hal-03835514⟩
  • Olivier Benveniste. Understanding necrotizing myopathy. TMA’s Annual Patient Conference, Sep 2018, Louisville, United States. ⟨hal-03831843⟩
  • Candice Kutchukian, Colline Sanchez, László Csernoch, P. Péter Szentesi, Pankaj B. Agrawal, et al.. Defective Ca2+ signaling in centronuclear myopathies.. 47th European Muscle Conference, Aug 2018, Budapest, Hungary. ⟨hal-02349603⟩
  • Gisèle Bonne. Keynote Lecture : Laminopathies from the first mutation to therapeutic avenues. Rare Diseases Summer School - Rare Disease Initiative Zürich, Jul 2018, Kartause Ittingen, Warth, Switzerland. ⟨hal-03984433⟩
  • Yves Allenbach. Cancer and Myositis. 15th International Congress of Neuromuscular Diseases (ICNMD 2018), Jul 2018, Vienne, Austria. ⟨hal-03834102⟩
  • Gisèle Bonne. Striated muscle Laminopathies from gene defects to pathophysiology mechanisms. 13th Meeting of the Mediterranean Society of Myology in connection with the 2nd Congress of the Turkish Neuromuscular Society, Jun 2018, Avanos, Cappadocia, Turkey. ⟨hal-03984438⟩
  • Gisèle Bonne. Laminopathies: unveiling the pathophysiology. Gordon Research Conference on Intermediate filaments, Jun 2018, Rennaissance Tuscany Il Ciocco, Italy. ⟨hal-03984444⟩
  • Olivier Benveniste. Inflammatory myopathies in France, from classification to physiogenesis. 11th Japanese-French workshop on NMD, Jun 2018, Tokyo, Japan. ⟨hal-03831839⟩
  • Margot Saunier, Benjamin Nayagom, Guillaume Dubois, Valérie Allamand. Shear Wave elastography assessment of muscle stiffness changes in KI-Col6a2 mice. 11th Japanese-French Workshop, Jun 2018, Tokyo, Japan. ⟨hal-04029253⟩
  • Catherine Coirault. Mechanobiology defects in LMNA-related congenital muscular dystrophy. XIII Congrès national AIM, Jun 2018, Gènes, Italy. ⟨hal-03944476⟩
  • Stéphane Vassilopoulos. Clathrin plaques form mecanotransduction platforms. Gordon Research Conference, Endocytosis and Lysosomes, Jun 2018, Andhover, United States. ⟨hal-03933461⟩
  • Capucine Trollet. Gene therapy for Oculopharyngeal muscular dystrophy. 11th Japanese-French Workshop “New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology”, Jun 2018, Tokyo, Japan. ⟨hal-04011201⟩
  • Catherine Coirault. Lamin A/C is crucial for skeletal muscle plasticity. Gordon Research Conferences, Jun 2018, -, Italy. ⟨hal-03944451⟩
  • So Braz, Aline Huguet-Lachon, C Chhuon, A Schmitt, C Guerrera, et al.. Investigating oligodendrocyte dysfunction in DM1 brain disease. 4th Congress of the Young Researchers of Imagine Institute, May 2018, Paris, France. ⟨hal-04003498⟩
  • Gisèle Bonne. The Laminopathies. Invited Seminar by Porf Alessandra Ferlini, May 2018, Ferrara, Italy. ⟨hal-03984446⟩
  • Jose Adolfo Villegas, Jérôme van Wassenhove, Alexandra Clarissa Bayer Wildberger, Régine Roussin, Nicola Santelmo, et al.. TH17/IL-23 TARGETED THERAPY IN A HUMANIZED MOUSE MODEL OF MYASTHENIA GRAVIS. Autoimmunity 2018, May 2018, Lisbone, Portugal. ⟨hal-03843470⟩
  • Yves Allenbach. Immune-mediated necrotizing myopathies and antibodies. 11TH INTERNATIONAL CONGRESS ON AUTOIMMUNITY, May 2018, Lisbonne, Portugal. ⟨hal-03834111⟩
  • Jose Adolfo Villegas, Alexandra Clarissa Bayer Wildberger, Rozen Le Panse, Sonia Berrih-Aknin, Nadine Dragin. IMPLICATION OF INTERLEUKIN 23 IN THE INFLAMMATORY EVENT OCCURING IN MYASTHENIA GRAVIS THYMUS. Autoimmunity 2018, May 2018, Lisbonne, Portugal. ⟨hal-03843507⟩
  • Gisèle Bonne. Insights in the pathophysiology of LMNA-related congenital muscular dystrophy. 4th Joint Meeting Belgian-Dutch Neuromuscular Study Group & German Reference Center for Neuromuscular Diseases, May 2018, Valls, Netherlands. ⟨hal-03983950⟩
  • Olivier Benveniste. The classification and physiopathogenesis of the main idiopathic inflammatory myopathies.. 5th Chinese Inflammatory Myopathies Meeting,, Apr 2018, Beijing, China. ⟨hal-03831834⟩
  • Sonia Berrih-Aknin, Rozen Le Panse, Nadine Dragin. AIRE: a missing link to explain female susceptibility to autoimmune diseases. Experimental biology, Apr 2018, San Diego, United States. ⟨hal-03843571⟩
  • So Braz, Aline Huguet-Lachon, C Chhuon, A Schmitt, C Guerrera, et al.. Investigating oligodendrocyte dysfunction in DM1 brain disease. International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri (IT), Italy. ⟨hal-04003486⟩
  • Olivier Benveniste. Les nouvelles myopathies inflammatoires : apport de l’immunologie dans leur classification.. 20ème Congrès National de Médecine Interne Tunisien, Mar 2018, Hammamet, Tunisie. ⟨hal-03831830⟩
  • Olivier Benveniste. Actualités thérapeutiques des myosites. 20ème Congrès National de Médecine Interne Tunisien, Mar 2018, Hammamet, Tunisie. ⟨hal-03831827⟩
  • Yves Allenbach. Dermatomyositis and IFN. Euromyositis registry and MYONET meeting, Feb 2018, Prague, Czech Republic. ⟨hal-03834100⟩
  • Jocelyn Laporte, Raphael Schneider, Edoardo Malfatti, Gisèle Bonne, France Leturcq, et al.. Analyse intégrée du grand projet de séquençage MYOCAPTURE d’identification de nouveaux gènes de myopathies. 9èmes Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France. ⟨hal-03986850⟩
  • Yves Allenbach. Nouvelle classification des myopathies inflammatoires : place des anticorps spécifiques. Académie nationale de médecine, Jan 2018, Paris, France. ⟨hal-03834242⟩
  • Capucine Trollet, Fanny Roth, Gillian S. Butler-Browne. Update on PABPN1 aggregates in Oculopharyngeal muscular dystrophy. 16èmes Journées de la Société Française de Myologie, 2018, Brest, France. ⟨hal-04011143⟩
  • Vanessa Strings-Ufombah, Alberto Malerba, Sonal Harbaran, Fanny Roth, O Cappellari, et al.. BB-301: a single “silence and replace” AAV-based vector for the treatment of oculopharyngeal muscular dystrophy (OPMD). The European Society of Gene and Cell Therapy, 2018, Lausanne, Switzerland. ⟨hal-04011134⟩
  • Rozen Le Panse. ALTERED NUMBER AND FUNCTIONALITY OF REGULATORY B CELLS IN MYASTHENIA GRAVIS PATIENTS.. 11th International Congress on Autoimmunity, 2018, Lisbonne, Portugal. ⟨hal-03861712⟩
  • Jean-François Darrigrand. Dullard, a phosphatase at the Heart of Outflow tract development and BMP pathway regulation. ESC Working Group: Marseille Cardiovascular Development meeting, 2018, Marseille, France. ⟨hal-03933559⟩
  • Mélanie Cron. Analysis of microRNA expression in the thymus of Myasthenia Gravis patients opens new research avenues. 11th International Congress on Autoimmunity, 2018, Lisbonne, Portugal. ⟨hal-03861707⟩
  • Gillian S. Butler-Browne, Vincent Mouly, Capucine Trollet. Oculopharyngeal muscular dystrophy: from bench to bedside and back again. XIII Congress of Mediterranean Society of Myology, 2018, Avanos, Cappadocia, Turkey. ⟨hal-04011212⟩
  • Strochlic Laure. Regulation of neuromuscular connectivity by Wnt signaling. Regulation of neuromuscular connectivEMBO Workshop on Molecular mechanisms of muscle wasting during aging and disease, 2018, Ascona, Switzerland. ⟨hal-04002986⟩
  • Cadot Bruno. The nuclear-cytoskeleton connection and nuclear positioning during muscle formation. Congress of the World Muscle Society, 2018, Mendoza, Argentina. ⟨hal-03933548⟩
  • Jean-François Darrigrand. Dullard, a phosphatase at the Heart of Outflow tract development and BMP pathway regulation. EMBO Imaging Mouse development, EMBL, 2018, Heidelberg, Germany. ⟨hal-03933563⟩
  • Negroni Elisa. Nature and role of interstitial non myogenic cells in human fibrotic muscle. Interuniversity Institute of Myology Meeting, 2018, Assisi, Italy. ⟨hal-04012478⟩
  • O. Benveniste, J.Y. Hogrel, M. Annoussamy, A. Rigolet, B. Hervier, et al.. Premiers résultats prometteurs de l’essai rapamycine versus placebo pour le traitement de la myosite à inclusions (RAPAMI). 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833928⟩
  • G. Dzangué-Tchoupou, Yves Allenbach, C. Aurélien, D. Amelin, W. Mauhin, et al.. Cytométrie de masse : caractéristiques phénotypiques de la réponse immunitaire systémique au cours des myosites. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833932⟩
  • K. Mariampillai, B. Granger, M. Guiguet, D. Amelin, E. Hachulla, et al.. Une nouvelle classification des myopathies inflammatoires idiopathiques basée sur des manifestations cliniques et les anticorps spécifiques des myosites. 76ÈME CONGRÈS DE LA SNFMI - FRANCO-MAGHRÉBIN, Dec 2017, Paris, France. ⟨hal-03833849⟩
  • G. Monseau, O. Landon-Cardinal, W. Stenzel, Y. Schoindre, K. Mariampillai, et al.. Dermatomyosites (DM) à anticorps anti-Mi2 revisitées : DM pure avec nécrose musculaire et haut risque de malignité associée. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833897⟩
  • O. Landon-Cardinal, Yves Allenbach, A. Soulages, A. Rigolet, B. Hervier, et al.. Rituximab dans le traitement des MNAI anti-HMGCR : efficacité modeste et IgIV-dépendance. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833941⟩
  • L. Gallay, N. Streichenberger, O. Benveniste, Yves Allenbach. Myosite focale : une maladie méconnue. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833916⟩
  • O. Benveniste, D. Bachasson, O. Landon-Cardinal, N. Champtiaux, L. Gilardin, et al.. Une solution nouvelle pour l’évaluation des myosites : la mesure de l’activité physique quotidienne par accéléromètrie. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833904⟩
  • W. Mauhin, L. Arouche-Delaperche, D. Amelin, J. Dimitrov, Yves Allenbach, et al.. Les anticorps anti-HMGCoA-reductase associés aux myopathies nécrosantes auto-immunes ont une forte affinité pour l’HMGCoA-reductase sans pour autant l’inhiber. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833921⟩
  • A. Uruha, Yves Allenbach, T. Maisonobe, S. Léonard-Louis, J.L. Charuel, et al.. Myxovirus resistance A : un marqueur histologique diagnostique pour la dermatomyosite. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833925⟩
  • S. Toquet, O. Landon-Cardinal, P. Guillaume-Jugnot, N. Champtiaux, L. Ladislau, et al.. Les inhibiteurs de la voie des Janus-kinases : un traitement prometteur de la dermatomyosite pour inhiber de la voie de l’interféron,. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833946⟩
  • Yves Allenbach, A. Rigolet, S. Louis-Leonard, E. Salort-Campana, L. Gilardin, et al.. Myopathie axiale vacuolaire avec rigidité : une nouvelle entité reliée aux gammapathies monoclonales. 76eme Congrès de la SNFMI Franco-Maghrébin, Dec 2017, Paris, France. ⟨hal-03833911⟩
  • Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Guy Brochier, et al.. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregates myopathy with synaptopathy. journées de la société française de myologie, Nov 2017, Colmar, France. ⟨hal-03994005⟩
  • Valérie Allamand, Isabelle Nelson, Maud Beuvin, Corine Gartioux, Fanny Roth, et al.. A new gene for myopathies with prominent contractures?. Journée Filnemus 2017, Nov 2017, Paris, France. ⟨hal-04029252⟩
  • Olivier Benveniste, Jean-Yves Hogrel, Melanie Annoussamy, Damien Bachasson, Aude Rigolet, et al.. Rapamycin vs. Placebo for the Treatment of Inclusion Body Myositis: improvement of the 6 min walking distance, a functional scale, the FVC and muscle quantitative MRI. 2017 ACR/ARHP Annual Meeting, Nov 2017, San Diego, United States. pp.1-3584. ⟨hal-03831822⟩
  • Mona Bensalah, Victorine Albert, Gonzalo Cordova, Alison Oliver, Laura Muraine, et al.. Peculiar behavior of interstitial non myogenic cells from human fibrotic muscle. 15èmes Journées de la Société Française de Myologie, Nov 2017, Colmar, France. ⟨hal-04011082⟩
  • Fanny Roth, Capucine Trollet, Gillian S. Butler-Browne. Deciphering the nature and role of PABPN1 nuclear aggregates in OPMD. 15èmes Journées de la Société Française de Myologie, Nov 2017, Colmar, France. ⟨hal-04011091⟩
  • Astrid Brull. Gene therapy for LMNA-related congenital muscular dystrophy. LMNA consortium Meeting atInstitute of Health Carlos III – ISCIII, Oct 2017, Madrid, Spain. ⟨hal-03986864⟩
  • Catherine Coirault. Lamin A/C is crucial for skeletal muscle plasticity. 14th IIM (Interuniversity Institute of Myology) meeting, Oct 2017, Assisi, Italy. ⟨hal-03972582⟩
  • J. Bohm, R. Schneider, E. Malfatti, V. Schartner, X. Lornage, et al.. Integrated analysis of the large-scale sequencing project ``Myocapture'' to identify novel genes for myopathies. 22nd International Congress of the World Muscle Society, Oct 2017, Saint Malo, France. pp.S195, ⟨10.1016/j.nmd.2017.06.367⟩. ⟨hal-01741738⟩
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  • Yves Allenbach. Myopathie et gammapathie Monoclonae. 9 eme Journée Interdisciplinaire du Muscle inflammatoire, Sep 2017, Paris, France. ⟨hal-03835519⟩
  • Olivier Benveniste. Promising Research in Inclusion Body Myositis. TMA’s Annual Patient Conference, Sep 2017, San Diego, United States. ⟨hal-03831792⟩
  • Ludovic Arandel, Micaela Polay-Espinoza, Magdalena Matloka, Audrey Bazinet, Damily de Dea Diniz, et al.. Immortalized Human Myotonic Dystrophy Muscle Cell Lines to Assess Therapeutic Compounds. International Myotonic Dystrophy Consortium Meeting IDMC-11, International Myotonic Dystrophy Consortium, Sep 2017, San Francisco, United States. ⟨hal-04019200⟩
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  • D Dinca, G Sicot, Aline Huguet-Lachon, So Braz, C Chhuon, et al.. CUG RNA toxicity in astrocytes is associated with adhesion and migration deficits and affects neuritogenesis. International Myotonic Dystrophy consortium Meeting 11, Sep 2017, San Francisco (CA, USA), United States. ⟨hal-04003470⟩
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  • Geneviève Gourdon. DMSXL mouse model of myotonic dystrophy: past present and future. Seminar, Centre de recherche en myologie, Mar 2017, Paris, France. ⟨hal-04007503⟩
  • Gisèle Bonne. Insights in the pathophysiology of striated muscle Laminopathies. Workshop of COST Action CA15214 An Integrative Action for Multidisciplinary Studies on Cellular Structural Networks, Pavel Hodzak, Mar 2017, Prague, Czech Republic. ⟨hal-03972189⟩
  • Diana Dinca, Sandra Braz, Geneviève Gourdon, Mário Gomes-Pereira. Investigating the mechanisms of brain disease in a mouse model of myotonic dystrophy. MDRU meeting, Mar 2017, Munich, Germany. ⟨hal-04001746⟩
  • E Dandelot, Stéphanie Tomé, C Dogan, Y Péréon, P Cintas, et al.. Atypical Myotonic Dystrophy type 1 families and CTG repeat contractions. Imagine Young Researcher Seminars, Mar 2017, Paris, France. ⟨hal-04001726⟩
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  • Olivier Benveniste. Classification and treatments of myositis. Third Lebanon congress of Internal Medicine, Jan 2017, Beyrouth, Lebanon. ⟨hal-03831774⟩
  • Capucine Trollet. Oculopharyngeal muscular Dystrophy. European Academy of Neurology, 2017, Amsterdam, Netherlands. ⟨hal-04011059⟩
  • Alberto Malerba, Pierre Klein, Houria Bachtarzi, Arnaud Ferry, Michael Graham, et al.. Gene replacement therapy as a novel approach for the treatment of oculopharyngeal muscular dystrophy. 45th European Muscle Conference, 2017, Montpellier, France. ⟨hal-04011108⟩
  • Rozen Le Panse. Thymus Involvement in Myasthenia Gravis. 13th International Conference on Myasthenia Gravis and Related Disorders, 2017, New York, United States. ⟨hal-03861799⟩
  • Cadot Bruno. Nesprin-1α-dependent microtubule nucleation from the nuclear envelope via Akap450 is necessary for nuclear positioning in muscle cells. COST, 2017, Prague, Czech Republic. ⟨hal-03946194⟩
  • Marieke Robinet, Bérengère Villeret, Solène Maillard, Mélanie Cron, Sonia Berrih-Aknin, et al.. Toll-like Receptor Agonists to Induce Experimental Autoimmune Myasthenia Gravis. 13th International Conference on Myasthenia Gravis and Related Disorders, 2017, New York, United States. ⟨hal-03861806⟩
  • Sonia Berrih-Aknin, Rozen Le Panse, Nadine Dragin. AIRE: a missing link to explain female susceptibility to autoimmune diseases. 13th International Conference on Myasthenia Gravis and Related Disorders, 2017, New York, United States. pp.21-32, ⟨10.1111/nyas.13529⟩. ⟨hal-02390914⟩
  • B. Kalman, C. Monge, Anne Bigot, Vincent Mouly, C. Picart, et al.. Engineering human 3D micromuscles with co-culture of fibroblasts and myoblasts.. Congress of the French Society of Biomechanics., Oct 2015, Paris, France. ⟨hal-02112199⟩
  • Florian Britto, Gwénaëlle Begue, Bernadette Rossano, Aurélie Docquier, Barbara Vernus, et al.. REDD1 deletion prevents dexamethasone-induced skeletal muscle atrophy. 12. Day of PhD Students in Chemical and Biological Sciences for Health, May 2014, Montpellier, France. ⟨hal-01837613⟩
  • Marine Gueugneau, Cécile C. Coudy-Gandilhon, Christophe C. Chambon, Brigitte B. Picard, A. Bijislma, et al.. Etude protéomique du vieillissement musculaire chez la femme post-ménopausée. 1. Assises de Nutrition et Metabolisme Rhône-Alpes-Auvergne, Oct 2013, Saint Galmier, France. ⟨hal-02749049⟩
  • C. Gentil, C. Le Guiner, Yan Cherel, M. Montus, P. Moulier, et al.. Dystrophin rescue needed to recover a correct location of nNOS and the return to a normalized RyR1 status in treated GRMD dogs. 18. International Congress of The World Muscle Society, Oct 2013, Asilomar, California, United States. ⟨10.1016/j.nmd.2013.06.701⟩. ⟨hal-02747723⟩
  • Yan Cherel, C. Le Guiner, Lydie Guigand, Maeva Dutilleul, Thibaut T. Larcher, et al.. Gene therapy of Duchenne muscular dystrophy using rAAV vectors: patterns of dystrophin expression and histological improvements. 18. International Congress of The World Muscle Society, Oct 2013, Asilomar, California, United States. ⟨10.1016/j.nmd.2013.06.702⟩. ⟨hal-02749774⟩
  • C. Le Guiner, M. Montus, L. Servais, Yan Cherel, J. Y. Hogrel, et al.. Gene therapy of Duchenne muscular dystrophy using rAAV vectors: Exon skipping and microdystrophin approaches in GRMD dogs. 18. International Congress of The World Muscle Society, Oct 2013, Asilomar, California, United States. ⟨10.1016/j.nmd.2013.06.703⟩. ⟨hal-02747693⟩
  • A. Solares Perez, C. Gartioux, M. Beuvin, M. Viou Thao, J. Laine, et al.. Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy. 17th International Congress of the World-Muscle-Society (WMS), Oct 2012, Perth, Australia. pp.827-828, ⟨10.1016/j.nmd.2012.06.088⟩. ⟨hal-03867637⟩
  • T. Voit, L. Servais, M. Montus, Y. Fromes, Yan Cherel, et al.. Progress towards sytemic delivery of AAV-based dystrophin gene correction. TREAT-NMD International conference, Nov 2011, Genève, Switzerland. n.p. ⟨hal-02805630⟩
  • L. Servais, C. Le Guiner, M. Montus, L. Garcia, Y. Fromes, et al.. Forelimb loco-regional injection of rAAV8-U7snRNA in GRMD dogs allows dose-dependant dystrophin expression and phenotypic correction. 16. International Congress of the World-Muscle-Society, World Muscle Society (WMS). INT., Oct 2011, Almancil, Portugal. ⟨10.1016/j.nmd.2011.06.760⟩. ⟨hal-02746401⟩

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  • Laura Virtanen, Cécile Peccate, Chiara D’ercole, Vaarany Karunanithy, Cindy Bertholon, et al.. Multimodal Single Cell profiling of Duchenne Muscular Dystrophy. Myology Conference 2022, Sep 2022, Nice, France. ⟨hal-04019783⟩
  • Louise Benarroch, Anne T. Bertrand, Maud Beuvin, Isabelle Nelson, Floriane Simonet, et al.. Identification of potential genetic modifiers underlying phenotypic variability in a French family with striated muscle laminopathies. 7th international congress of myology - Myology2022, Sep 2022, Nice, France. ⟨hal-04004811⟩
  • Alexandra Bayer Wildberger, Cinthia Bergman, Natalia Pinzon, Axel You, Frédérique Truffault, et al.. Immunomodulation capacities of conditioned mesenchymal stromal cells: benefits and mechanisms in an experimental cell therapy approach for Myasthenia gravis. 7th International Myology Congress, Sep 2022, Nice, France. ⟨hal-03824304⟩
  • Germana Falcone, Mariapaola Izzo, Beatrice Cardinali, Jonathan Battistini, Silvia Mandillo, et al.. Application of CRISPR/Cas9 strategy for gene therapy of Myotonic Dystrophy type 1. Myology, Sep 2022, Nice, France. ⟨hal-04009784⟩
  • Anne-Charlotte Lefranc, Frédérique Truffault, Sonia Berrih-Aknin, Rozen Le Panse, Nadine Dragin. MAY IL-17 PLAY A ROLE IN THE PATHOPHYSIOLOGICAL EVENTS OCCURING IN SKELETAL MUSCLE IN AUTOIMMUNE MG?. Myology 2022, Sep 2022, Nice, France. ⟨hal-03844227⟩
  • Florent Porquet, L Weidong, K Jehasse, H Gazon, Maria Kondili, et al.. Switch-off the trouble:DMPK promoter targeting by CRISPRi as an original specific therapy in DM1. 7th international congress of Myology, Sep 2022, Nice, France. ⟨hal-04022715⟩
  • Marie-Thérèse Daher, Marisa Cappella, Alessandra Ricupero, Chloé Nguyen Van, Anne Bigot, et al.. An in vitro model to understand the C9orf72-linked Amyotrophic Lateral Sclerosis features in skeletal muscle. 7th International Congress of Myology, Sep 2022, Nice, France. ⟨hal-04002435⟩
  • Alexandre Prola, Laurence Neff, Olivier Dorchies, Valérie Allamand, Frederic Relaix, et al.. Metabolic regulation of adult muscle stem cells. Myologie 2022, Sep 2022, Nice, France. ⟨hal-04029216⟩
  • Astrid Brull, Maud Beuvin, Isabelle Nelson, Gisèle Bonne, Anne T. Bertrand. miRNA-processing pathway is impaired in striated muscle laminopathies. 7th international congress of myology: Myology2022, Sep 2022, Nice Acropolis, France. ⟨hal-03992829⟩
  • Enzo Cohen, Isabelle Nelson, Corine Gartioux, Maud Beuvin, Zaineb Mezdari, et al.. LOXL4 loss-of-function: a novel cause of matrisome-related disease. 7th international congress of myology - Myology2022, Sep 2022, Nice, France. ⟨hal-04003081⟩
  • Nicolas Vignier. The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies. MYOLOGY, Sep 2022, Nice, France. ⟨hal-04012905⟩
  • Julie Tahraoui-Bories, Antoine Mérien, Jeanne Lainé, Florine Roussange, Anchel González-Barriga, et al.. MBNL dependent-impaired development connectivity within neuromuscular circuits in Myotonic Dystrophy type.. Myology 2022, Sep 2022, Nice, France. ⟨hal-04005593⟩
  • Alain Sureau, Aline Huguet, Ludovic Arandel, Aurélien Cordier, Pauline Megalli, et al.. Development of a new mouse model for Myotonic Dystrophy type 1. 7th International Myology Congress, Sep 2022, Nice, France. ⟨hal-04002540⟩
  • Chiara Noviello, Massiré Traoré, Bruno Cadot, Lucile Saillard, Béatrice Matot, et al.. Exploring the protective role of GDF5 against skeletal muscle disuse atrophy. Myology Conference 2022, Sep 2022, Nice (FRANCE), France. ⟨hal-04020141⟩
  • Mariko Okubo, Astrid Brull, Maud Beuvin, Nathalie Mougenot, Valérie Paradis, et al.. Gene therapy for striated muscle laminopathy. 7th international congress of myology - Myology2022, Sep 2022, Nice, France. ⟨hal-04004819⟩
  • Saline Jabre, W Hleilel, Catherine Coirault. LaminA/C regulates chromatin organization and transcription in skeletal muscle during mechanical stretch.. Myology, Sep 2022, Nice, France. 2022. ⟨hal-03953255⟩
  • Delphine Trochet, Bernard Prudhon, Lylia Mekzine, Mégane Lemaitre, Maud Beuvin, et al.. Benefits of therapy by Dynamin 2 mutant specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy. Myology 2022, Sep 2022, Nice, France. 2022. ⟨hal-03892191⟩
  • Valérie Allamand, Maria Soledad Monges, Corine Gartioux, Ana Lia Taratuto, Alix De Becdelièvre, et al.. A complex COL6A3 mutation identification: it takes an international village. Myology 2022, Sep 2022, Nice, France. ⟨hal-04029226⟩
  • Isabelle Nelson, Enzo Cohen, German Demidov, Aurélien Perrin, Mireille Cossée, et al.. Solve-RD, solving unsolved cold cases: TTN deletion described thanks to a systematic Copy Number Variant/Structural Variant (CNV/SV) reanalysis. 7th international congress of myology - Myology2022, Sep 2022, Nice, France. ⟨hal-04004807⟩
  • C Meyer, E Lacene, M Beuvin, T Evangelista, J Laporte, et al.. From the Muscle Atlas to an AI-based diagnostic tool. Myology, Sep 2022, Nice, France. 2022. ⟨hal-03953249⟩
  • Sestina Falcone, T. Marais, M. Traoré, C. Gentil, J. Mésseant, et al.. Unraveling the role of GDF5 therapeutic potential in Amyotrophic Lateral Sclerosis. Myology 2022, Sep 2022, Nice (FRANCE), France. ⟨hal-04002164⟩
  • Chiara Noviello, Sestina Falcone, Bruno Cadot, Lucile Saillard, Béatrice Matot, et al.. Exploring the protective role of GDF5 against skeletal muscle disuse atrophy. Myology Conference 2022, Sep 2022, Nice (FRANCE), France. ⟨hal-03994516⟩
  • Anne T Bertrand. miRNA-processing pathway is impaired in skeletal muscle laminopathies. Myology 2022, Sep 2022, Nice, France. ⟨hal-04170057⟩
  • Yu-Chih Tsai, Laure de Pontual, Cheryl Heiner, Tanya Stojkovic, Denis Furling, et al.. Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing.. Myology 2022, Sep 2022, Nice, France. ⟨hal-04005603⟩
  • Amélie Vergnol, Alain Sureau, A. Traoré, X. Lornage, G. Gourdon, et al.. Role of MuscleBlind-Like proteins in the regulation of expression of CaVβ1 isoforms in adult skeletal muscle. Myology 2022, Sep 2022, Nice (FRANCE), France. ⟨hal-03999540⟩
  • Samuel Horita, Mona Bensalah, Anne Bigot, Kamel Mamchaoui, Negroni Elisa, et al.. Laminin-111 derived peptide promotes adhesion, proliferation, differentiation and migration in human muscle cells.. Myology 2022, Sep 2022, Nice, France. ⟨hal-04010988⟩
  • Laura Muraine, Mona Bensalah, Jamila Dhiab, Stephen Gargan, Paul Dowling, et al.. Molecular and cellular actors of human muscle fibrosis among different muscular disorders. Myology 2022, Sep 2022, Nice, France. ⟨hal-04010959⟩
  • Alexis Boulinguiez, Jamila Dhiab, Fanny Roth, Ludovic Gaut, Valentine Hanique, et al.. ER stress participates to aggresome accumulation in oculopharyngeal muscular dystrophy. Myology 2022, Sep 2022, Nice, France. ⟨hal-04010927⟩
  • Hadidja-Rose Mouigni, Nami Altin, Jamila Dhiab, Fanny Roth, Jean Lacau-St Guily, et al.. Control of PABPN1 expression in skeletal muscle. Myology 2022, Sep 2022, Nice, France. ⟨hal-04010967⟩
  • Yu-Chih Tsai, Cheryl Heiner, Tanya Stojkovic, Denis Furling, Guillaume Bassez, et al.. Nouvelle méthode de Séquençage à longue lecture dans la DM1: vers une caractérisation génotype-phénotype affinée. Conference E-Rare, Sep 2022, Paris, France. ⟨hal-04007021⟩
  • Ohana Jessica, Kamel Mamchaoui, Mona Bensalah, Negroni Elisa, Capucine Trollet, et al.. Immortalized human muscle cells: easy-to-use models to study neuromuscular diseases. Myology 2022, Sep 2022, Nice, France. ⟨hal-04010975⟩
  • Elisabetta Golini, Tiziana Orsini, Mara Rigamonti, Mariapaola Izzo, Jonathan Battistini, et al.. Behavioural abnormalities in DMSXL mice, a model of Myotonic Dystrophy type 1. Federation of European Neuroscience Societies Forum 2022, Jul 2022, Paris, France. ⟨hal-04009698⟩
  • Saline Jabre, W Hleilel, Catherine Coirault. Impact of mechanical stretch on nuclear shape and chromatin organization in skeletal muscle. International Congress on Neuromuscular Diseases ICNMD, Jul 2022, Bruxelles, Belgium. 2022. ⟨hal-03959289⟩
  • Alex Corscadden, Louison Lallemant, Hélène Benyamine, Jean-Christophe Comte, Aline Huguet-Lachon, et al.. Defects in mouse cortical glutamate uptake can be unveiled in vivo by a two-in-one quantitative microdialysis.. Monitoring Molecules in Neuroscience, Jun 2022, Lyon, France. ⟨hal-04006970⟩
  • Brigitte Potier, Louison Lallemant, Sandrine Parrot, Aline Huguet-Lachon, Geneviève Gourdon, et al.. DM1 transgenic mice exhibit abnormal neurotransmitter homeostasis and synaptic plasticity in association with RNA mis-splicing in the hippocampus. 18th International Conference - Monitoring Molecules in Neuroscience, Jun 2022, Lyon, France. , ⟨10.3390/ijms2302059⟩. ⟨hal-04006990⟩
  • Diana Mihaela Dincã, Louison Lallemant, Anchel González-Barriga, Noemie Cresto, Sandra Braz, et al.. Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes. International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan. ⟨hal-04006873⟩
  • Yu-Chih Tsai, Laure de Pontual, Cheryl Heiner, Tanya Stojkovic, Guillaume Bassez, et al.. Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing.. International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan. ⟨hal-04007014⟩
  • Julie Tahraoui-Bories, Antoine Mérien, Florine Roussange, Anchel González-Barriga, Jeanne Lainé, et al.. MBNL-dependent impaired development connectivity within neuromuscular circuits in myotonic dystrophy type 1. International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan. ⟨hal-04006954⟩
  • Céline Anquetil, Nozomu Tawara, Maxime Lecerf, Damien Amelin, Alexandrine Mahoudeau, et al.. Antigenic targets in anti-SRP immune-mediated necrotizing myopathy. 4th Global Conference On Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03832564⟩
  • Loïs Bolko, Sarah Leonard-Louis, Lukshe Kanagaratnam, Charlotte Pineau, Jean-Hugues Salmon, et al.. Diagnostic accuracy of electromyogram for myositis. 4th Global Conference On Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03832588⟩
  • Alexandrine Mahoudeau, Céline Anquetil, Nozomu Tawara, Hossein Khademian, Damien Amelin, et al.. Myostatin in idiopathic inflammatory myopathies: serum assessment and disease activity. 4th Global Conference On Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03832567⟩
  • Julian Dal Cin, Céline Anquetil, Mehdi Touat, Lisa Salhi, Hossein Khademian, et al.. Description of macrophages in idiopathic inflammatory myopathies using in-situ RNAseq. 4th Global Conference On Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03832557⟩
  • Corinna Preusse, Andreas Hentschel, Albert Sickmann, Yves Allenbach, Olivier Benveniste, et al.. Upregulation of structural proteins in immune-mediated necrotizing myopathy is independent of underlying autoantibodies. 4TH GLOBAL CONFERENCE ON MYOSITIS 2022, Jun 2022, Prague, Czech Republic. ⟨hal-03832549⟩
  • Yves Allenbach, Guillaume Mercy, Jean-Francois Deux, Frantz Foissac, Yoland Shoindre, et al.. Diagnosis accuracy of muscule MRI for autoimmune myopathies: Multicentric prospective study (DARWIM). 4th Global Conference On Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03832571⟩
  • Samy Mensi, Horstense Chassepot, Dris Kharroubi, Lotta Plomp, Baptiste Abbar, et al.. 18-FDG PET-CT diagnostic value in immune checkpoint inhibitor-induced myositis. 4th Global Conference On Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03832576⟩
  • M. Lekieffre, Yves Allenbach, A. Meyer, S. Louis-Léonard, O. Benveniste, et al.. Refining rheumatoid arthritis and myositis overlap: a multicentric French case-series. 4th Global Conference On Myositis (GCOM 2022), Jun 2022, Prague, Czech Republic. ⟨hal-03832585⟩
  • Florine Roussange, Amélie Weiss, Kalina Radoynovska, Jacqueline Gide, Johana Tournois, et al.. Target-agnostic drug discovery approach using informative high-content imaging for identification of a myogenic modulator in DM1 context. International Myotonic Dystrophy Consortium Meeting IDMC-13, May 2022, Osaka, Japan. ⟨hal-04022935⟩
  • Florent Porquet, L. Weidong, K. Jehasse, H. Gazon, M. Kondili, et al.. "Switch-off the trouble: DMPK promoter targeting by CRISPRi as an original specific therapy in DM1". International Myotonic Dystrophy Consortium Meeting IDMC-13, May 2022, Osaka, Japan. ⟨hal-04000580⟩
  • Julie Tahraoui-Bories, Antoine Mérien, Florine Roussange, Anchel Gonzalez-Barriga, Jeanne Lainé, et al.. MN dependent-impaired development connectivity within neuromuscular circuits in Myotonic Dystrophy type 1. International Myotonic Dystrophy Consortium Meeting IDMC-13, May 2022, Osaka, Japan. ⟨hal-04022921⟩
  • Frédérique Truffault, Jérôme van Wassenhove, Elie Fadel, Francis Bolgert, Sophie Demeret, et al.. Novel biomarkers associated with autoimmune Myasthenia Gravis: a pilot study using two different proteomic approaches. 14th MGFA International Conference On Myasthenia And Related Disorders, May 2022, Miami, United States. ⟨hal-03853740⟩
  • Edouard Hemery, Frédérique Truffault, Julien Verdier, Sophie Demeret, Sonia Berrih-Aknin, et al.. Decrease in non-classical monocytes in Myasthenia Gravis patients. 14th MGFA International Conference On Myasthenia And Related Disorders, May 2022, Miami, United States. ⟨hal-03853647⟩
  • Anne-Charlotte Lefranc, Samy Hamadache, Lucie Garnier, Frédérique Truffault, Elie Fadel, et al.. MAY IL-17 PLAY A ROLE IN SKELETAL MUSCLE IN PATHOPHYSIOLOGICAL MECHANISM IN AUTOIMMUNE MG?. 14th MGFA International Conference On Myasthenia And Related Disorders, May 2022, Miami, United States. ⟨hal-03844178⟩
  • Julien Verdier, Edouard Hemery, Odessa-Maud Fayet, Frédérique Truffault, Aurélien Corneau, et al.. Characterization of circulating immune cells in Myasthenia Gravis by mass cytometry revealed dysregulation on innate immune cells. 14th MGFA International Conference On Myasthenia And Related Disorders, May 2022, Miami, United States. ⟨hal-03853709⟩
  • A Atalaia, C Hernandez Ferrer, A Corvó, L Matalonga, R Thompson, et al.. Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility. Solve-RD Annual Meeting 2022, Apr 2022, Virtual Conference, Germany. ⟨hal-03989222⟩
  • Massiré Traoré, Chiara Noviello, Gentil Christel, Julien Messéant, Ericky Caldas, et al.. Therapeutic approach based on GDF5 to counteract age-related muscle wasting. Muscle formation, maintenance, regeneration and pathology-EMBO workshop, Apr 2022, Gouvieux (FR), France. ⟨hal-04002159⟩
  • Cecile Peccate, Chiara D’ercole, Vaarany Karunanuthy, Cecile Bertholle, Brigitte Izac, et al.. Multimodal Single Cell profiling of Duchenne Muscular Dystrophy. EMBO - Muscle formation, maintenance, regeneration and pathology, Apr 2022, Gouvieux, France. ⟨hal-04019214⟩
  • Corinne Métay, Valérie Allamand, Valérie Jobic, Corine Gartioux, Maud Beuvin, et al.. Corrélation entre variants du gène TNXB et la coexistence de 2 types de syndromes d’Ehlers-Danlos dans une même famille. 11èmes Assises de Génétique Humaine et Médicale, Feb 2022, Rennes, France. ⟨hal-04029242⟩
  • Hadidja-Rose Mouigni, Nami Altin, Jamila Dhiab, Fanny Roth, Jean Lacau-St Guily, et al.. Control of PABPN1 expression in skeletal muscle. 19èmes Journées de la Société Française de Myologie, 2022, Toulouse, France. ⟨hal-04010992⟩
  • Laura Muraine, Mona Bensalah, Jamila Dhiab, Stephen Gargan, Paul Dowling, et al.. Molecular and cellular actors of human muscle fibrosis among different muscular disorders. Journées Boris Ephrussi, 2022, Paris, France. ⟨hal-04011029⟩
  • Hadidja-Rose Mouigni, Nami Altin, Jamila Dhiab, Fanny Roth, Jean Lacau-St Guily, et al.. Control of PABPN1 expression in human skeletal muscle. Post-transcriptional Control of Gene Expression Conference: Mechanisms of RNA Decay, 2022, Jupiter, United States. ⟨hal-04011417⟩
  • Frédérique Truffault, Axel You, Julien Verdier, Sophie Demeret, Rozen Le Panse, et al.. Decrease in non-classical monocytes in Myasthenia Gravis patients. Congrès annuel de la Société Française d’Immunologie, 2022, Nice, France. ⟨hal-03861651⟩
  • Halliez Marius, Cottin Steve, You Axel, Lemaitre Mégane, Ezan Jérome, et al.. MUSK CYSTEIN RICH DOMAIN IN AUTOIMMUNE MYASTHENIC SYNDROME. 7th International Myology Congress, 2022, Nice, France. ⟨hal-04002800⟩
  • Axel You, Odessa-Maud Fayet, Solene Maillard, Laureline Bétemps, Nadine Dragin, et al.. Development of a new experimental Myasthenia Gravis mouse model.. MYOLOGY 2022, 2022, Nice, France. ⟨hal-03861640⟩
  • Edouard Hemery, Frédérique Truffault, Axel You, Julien Verdier, Sophie Demeret, et al.. DECREASE IN NON-CLASSICAL MONOCYTES IN MYASTHENIA GRAVIS PATIENTS. MYOLOGY 2022, 2022, Nice, France. ⟨hal-03861644⟩
  • Halliez Marius, Cottin Steve, You Axel, Lemaitre Mégane, Ezan Jérome, et al.. MUSK CYSTEIN RICH DOMAIN IN AUTOIMMUNE MYASTHENIC SYNDROME. 14th MGFA International Conference On Myasthenia And Related Disorders, 2022, Miami (Florida), United States. ⟨hal-04002779⟩
  • Hadidja-Rose Mouigni, Nami Altin, Jamila Dhiab, Fanny Roth, Jean Lacau-St Guily, et al.. Regulation of PABPN1 expression in skeletal muscle. Journées Boris Ephrussi, 2022, Paris, France. ⟨hal-04011407⟩
  • Trochet Delphine, Dudhal Swati, Mekzine Lylia, Prudhon Bernard, Cadot Bruno, et al.. Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations. Journées de la Société Française de Myologie, 2022, Toulouse, France. 2022. ⟨hal-03875467⟩
  • Anne-Charlotte Lefranc, Samy Hamadache, Charles Grosjean, Nadine Dragin. IL-17, SKELETAL MUSCLE AND MYASTHENIA GRAVIS. SFI 2021, Dec 2021, Paris, France. ⟨hal-03844152⟩
  • Christel Gentil, Lucile Saillard, Amélie Vergnol, Lorenzo Giordani, Bruno Cadot, et al.. GDF5 therapeutic potential for DMD. SFM 2021, Nov 2021, St Etienne, France. ⟨hal-03994315⟩
  • Delphine Trochet, Bernard Prudhon, Lylia Mekzine, Mégane Lemaitre, Maud Beuvin, et al.. Benefits of therapy by Dynamin 2 mutant specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy. Journées de la Société Française de Myologie, Nov 2021, Saint-Etienne, France. 2021. ⟨hal-03959305⟩
  • Massiré Traoré. Therapeutic approach based on GDF5 to counteract age-related muscle loss. Journées annuelles de la Société Française de Myologie 2021, Nov 2021, Saint-Etienne, France. ⟨hal-03997686⟩
  • Anne T Bertrand, Astrid Brull, Feriel Azibani, Louise Benarroch, Khadija Chikhaoui, et al.. Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy. 18èmes Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France. ⟨hal-03989163⟩
  • Saline Jabre, W Hleilel, Catherine Coirault. Impact of mechanical stretch on nuclear shape and chromatin organization in skeletal muscle.. Journées de la Société Française de Myologie, Nov 2021, Saint Etienne, France. 2021. ⟨hal-03967966⟩
  • Nicolas Vignier. The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies. Journée de la societe française de Myologie, Nov 2021, Saint Etienne (FR), France. ⟨hal-04012882⟩
  • Sestina Falcone, T. Marais, M. Traoré, C. Gentil, J. Mésseant, et al.. Unraveling the role of GDF5 therapeutic potential in Amyotrophic Lateral Sclerosis. 18ème Journée de la Societé Française de Myologie, Nov 2021, Saint-Etienne (FR), France. ⟨hal-04002180⟩
  • Chassepot Hortense, Plomp Lotta, Psimaras Dimitri, Maisonobe Thierry, Plu Isabelle, et al.. Immune checkpoint inhibitor-related myotoxicity : Musculoskeletal and/or neuromuscular junction disorder ?. American College of Rheumatology Convergence, ACR 2021, Nov 2021, San Diego, United States. 73 (S9), pp.1-4259, 2021, ⟨10.1002/art.41966⟩. ⟨hal-03831277⟩
  • Alexandrine Mahoudeau, Céline Anquetil, Nozomu Tawara, Hossein Khademian, Damien Amelin, et al.. Myostatin in idiopathic inflammatory myopathies: Seric assessment and disease activity. American College of Rheumatology Convergence, ACR 2021, Nov 2021, San Diego, United States. 73 (S9), pp.1-4259, 2021, ⟨10.1002/art.41966⟩. ⟨hal-03831267⟩
  • Loïs Bolko, Sarah Léonard-Louis, Jean Hugues Salmon, Olivier Benveniste, Yves Allenbach, et al.. Diagnostic accuracy of electromyogram for myositis. American College of Rheumatology Convergence, ACR 2021, Nov 2021, San Diego, United States. 73 (S9), pp.1-4259, 2021, ⟨10.1002/art.41966⟩. ⟨hal-03831303⟩
  • Eveline Van Gompel, Catia Cerqueira, Karine Chemin, Begum Horuluoglu, Angeles Shunashy Galindo- Feria, et al.. MDA5 helicase domains identified as the main targets of anti-MDA5 autoantibodies in european dermatomyositis patients. American College of Rheumatology Convergence, ACR 2021, Nov 2021, San Diego, United States. 73 (S9), pp.1-4259, 2021, ⟨10.1002/art.41966⟩. ⟨hal-03831280⟩
  • Hadidja-Rose Mouigni, Nami Altin, Jamila Dhiab, Fanny Roth, Jean Lacau-St Guily, et al.. Regulation of PABPN1 expression in skeletal muscle. 18èmes Journées de la Société Française de Myologie, Nov 2021, Saint-etienne, France. ⟨hal-04010908⟩
  • Alexis Boulinguiez, Capucine Trollet. Reducing ER stress to resolve aggresome accumulation in oculopharyngeal muscular dystrophy. Frontiers in Myogenesis Conference, Nov 2021, Herradura, Costa Rica. ⟨hal-04010913⟩
  • Nicolas Vignier. The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies. 18th IIM Meeting, Oct 2021, Distanciel zoom, Italy. ⟨hal-04012868⟩
  • G. Moulay, I. Nelson, J. Lainé, E. Cohen, M. Lemaître, et al.. The alpha2-subunit of the AP2 clathrin adaptor as the causal gene in an atypical myopathy with granulofilamentous inclusions. 26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S141-S142, 2021, ⟨10.1016/j.nmd.2021.07.326⟩. ⟨hal-03983816⟩
  • M Depla, A Robé, S Buono, C Koch, Marc Bitoun, et al.. ASO-mediated Dnm2 knockdown ameliorates the centronuclear myopathy phenotype of Dnm2RW/+ mice in a dose-dependent manner after disease onset. Congress of the World Muscle Society, Sep 2021, Virtual, France. 2021. ⟨hal-03959319⟩
  • M Vecten,, E Pion,, Rj Morales,, D Sternberg,, J Rendu,, et al.. Objective evaluation of clinical actionability for genes involved in myopathies: 34 promising genes. 26th International Congress of the World-Muscle-Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31 (Suppl 1), pp.LBP.14, 2021. ⟨hal-03983901⟩
  • A. Atalaia, R. Thompson, L. Matalonga, C. Hernandez-Ferrer, A. Corvo, et al.. The Treatabolome flags treatable genes and variants: an emerging concept. 26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S146-S147, 2021, ⟨10.1016/j.nmd.2021.07.344⟩. ⟨hal-03983828⟩
  • Stéphanie Bauché, Damien Sternberg, Céline Buon, Julien Messéant, Myriam Boëx, et al.. Identification of a new splice site mutation in synaptotagmin-2 responsible for a severe and early presynaptic form of congenital myasthenic syndrome. World muscle society, Sep 2021, Online, France. ⟨hal-03994061⟩
  • Gilles Moulay, Isabelle Nelson, Jeanne Lainé, Enzo Cohen, Mégane Lemaître, et al.. The α2-subunit of the AP2 clathrin adaptor as a new causal gene in an atypical myopathy with granulofilamentous inclusions. Congress of the World Muscle Society, Sep 2021, Virtual, France. 2021. ⟨hal-03967904⟩
  • S. Elouej, I. Nelson, E. Cohen, R. Ben Yaou, A. Isapof, et al.. Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement. 26th International Congress of the World Muscle Society (WMS), Sep 2021, Virtual conference, United Kingdom. Neuromuscular Disorders, 31, pp.S72, 2021, ⟨10.1016/j.nmd.2021.07.100⟩. ⟨hal-03983822⟩
  • Florent Porquet, L Weidong, K Jehasse, H Gazon, S Blacher, et al.. Highly efficient and specific DMPK promoter inhibition by CRISPRi in DM1 patient-derived myotubes. MDF Annual Conference, Sep 2021, Virtual conference, United States. ⟨hal-04022777⟩
  • Carles Hernandez-Ferrer, Leslie Matalonga, Rachel Thompson, Leigh Carmody, Davide Piscia, et al.. The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.. European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom. ⟨hal-03988844⟩
  • C Hernandez-Ferrer,, A Corvo,, L Matalonga,, R Thompson,, L Carmody,, et al.. Treatabolome database: towards enhancing Rare Diseases' treatment visibility. 54th European Society of Human Genetics (ESHG) Conference, Aug 2021, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 30 (Suppl 1), pp.P17.076.C, 2022. ⟨hal-03983893⟩
  • Corinna Preuße, Pascale Eede, Lucie Heinzeling, Kiara Freitag, Randi Koll, et al.. NanoString technology distinguishes anti-TIF-1γ+ from anti-Mi-2+ dermatomyositis patients. 12th European Congress of Neuropathology virtual, May 2021, NA, Sweden. 40 (07), pp.149, 2021, ⟨10.5414/NPP40M01⟩. ⟨hal-03831768⟩
  • Alexandra Bayer Wildberger, José Villegas, Julien Verdier, Mariette Giannini, Solène Maillard, et al.. Will Mesenchymal Stromal Cells become tools for immunomodulation in Myasthenia Gravis ?. 12th International Congress on Autoimmunity, May 2021, Virtual Congress, Greece. ⟨hal-03440251⟩
  • Judith Merrheim, Sonia Berrih-Aknin, Rozen Le Panse, Nadine Dragin. AhR ligands effects on thymic epithelial cell differentiation and function. 12th international congress on autoimmunity, May 2021, virtual, France. ⟨hal-03844091⟩
  • Lallemant Louison, Gourdon Genevieve, Mário Gomes-Pereira. Study of axonal transport in myotonic dystrophy Type 1. Journée Boris Ephrussi, May 2021, Paris, France. ⟨hal-04009795⟩
  • Anne T. Bertrand, Astrid Brull, Feriel Azibani, Monika Zwerger, Colin Stewart, et al.. Combination of haploinsufficiency and dominant negative effects of mutant lamin A/C are responsible for the increased severity of L-CMD compared with EDMD. Cure-CMD: 2021 Virtual SciFam, May 2021, Virtual conference, United States. ⟨hal-03988774⟩
  • G Bruneteau, D Devos, A Bordet, E Bernard, Jp Camdessanche, et al.. A French national network to improve organization and inclusion in clinical trials: Alliance on Clinical Trials for ALS-MND (ACT4ALS-MND). ALS-MND congress, 2021, Par visioconférence, France. ⟨hal-04015853⟩
  • Frédérique Truffault, Jérôme van Wassenhove, Elie Fadel, Francis Bolgert, Sophie Demeret, et al.. Altered Novel biomarkers associated with autoimmune Myasthenia Gravis: a pilot study using two different proteomic approaches. 15th International Congress of Neuroimmunology (ISNI), 2021, Nice (Virtual), France. ⟨hal-03861685⟩
  • Laura Muraine, Mona Bensalah, Jean Lacau St Guily, Kay Ohlendieck, Aurélien Corneau, et al.. Molecular and cellular actors of human muscle fibrosis among muscular disorders. Journées Boris Ephrussi, 2021, Virtual conference, France. ⟨hal-04011015⟩
  • Claire Lefeuvre, Cloé Payet, Odessa-Maud Fayet, Solène Maillard, Frédérique Truffault, et al.. Risk factors associated with myasthenia gravis in thymoma patients: a link with ectopic germinal centers. 12th International Congress on Autoimmunity, 2021, Athènes (Virtual), Greece. ⟨hal-03861873⟩
  • Thierry Poynard, Olivier Deckmyn, Marika Rudler, Valentina Peta, Yen Ngo, et al.. Performance of serum apolipoprotein-a1 as a sentinel of COVID-19. 71st Annual Meeting of the American Association for the Study of Liver Diseases, AASLD, Nov 2020, Boston, United States. 72 (S1), 2020, ⟨10.1002/hep.31579⟩. ⟨hal-03831756⟩
  • Alexander Oldroyd, Paul New, Janine Lamb, William Ollier, Robert Cooper, et al.. Earlier Cancer Diagnosis after Idiopathic Inflammatory Myopathy Onset Is Associated with Improved Long Term Survival - Results from Four European Cohorts. American College of Rheumatology Convergence, ACR 2020 virtual, Nov 2020, NA, United States. ⟨hal-03831570⟩
  • Loïs Bolko, Kevin Didier, Jean-Hugues Salmon, Makoto Miyara, Segolene Toquet, et al.. Anti-Jo1 Antibody Quantification Serve as a Prognostic Factor in Antisynthetase Syndrom. American College of Rheumatology Convergence, ACR 2020 virtual, Nov 2020, NA, United States. 72 (S10), pp.1-4259, 2020, ⟨10.1002/art.41538⟩. ⟨hal-03831580⟩
  • Alexandre Le Joncour, Corinne Frère, Isabelle Martin-Toutain, Paul Gougis, Pascale Ghillani-Dalbin, et al.. Antiphospholipid Antibodies and Thrombotic Events in COVID-19 Patients Hospitalized in Medicine Ward. ACR Convergence 2020, Nov 2020, Online, United States. , 20 (2), pp.102729, 2021, Elsevier Public Health Emergency Collection. ⟨10.1016/j.autrev.2020.102729⟩. ⟨hal-03831591⟩
  • Chloé Comarmond, Mathilde Leclercq, Gaëlle Leroux, Cindy Marques, Alexandre Le Joncour, et al.. 2019 Novel Coronavirus Disease (COVID-19) in Patients with Large-Vessels Vasculitis: Single-centre Experience in Paris. American College of Rheumatology Convergence, ACR 2020, Nov 2020, NA, United States. 72 (S10), pp.1-4259, 2020, ⟨10.1002/art.41538⟩. ⟨hal-03831597⟩
  • Sahar Elouej, Delamare Marine, Marisa Cappella, Mathilde Cohen-Tannoudji, Stéphanie Astord, et al.. STUDY OF POTENTIAL OFF-TARGET CANDIDATE SITES FOR ANTISENSE SEQUENCES INDUCING EXON SKIPPING IN SOD1-LINKED AMYOTROPHIC LATERAL SCLEROSIS. JR6 FILSLAN-ARSLA, Oct 2020, Online, France. ⟨hal-04002468⟩
  • Jessy Etienne, Pierre Joanne, Cyril Catelain, Stéphanie Riveron, Alexandra Clarissa Bayer, et al.. Targeting aldehyde dehydrogenase to mitigate the physiopathology of Duchenne muscular dystrophy. 3rd Victorian Muscle Network Symposium 2020, Oct 2020, Virtual Congress, Australia. ⟨hal-03440309⟩
  • Emmanuelle Lacène, Maud Beuvin, Teresinha Evangelista, Norma Romero, Bruno Cadot. Skeletal Muscle Atlas: a tool for the muscle community. Congress of the World Muscle Society, Sep 2020, Virtual, France. ⟨hal-03968094⟩
  • Delamare Marine, Sahar Elouej, Anne Bigot, Marisa Cappella, Maria Grazia Biferi. Development and characterization of in vitro models to test the efficiency of gene therapy approaches in SOD1-linked Amyotrophic lateral sclerosis. WMS, Sep 2020, online, France. ⟨hal-04002518⟩
  • Mr Luca Pinton, Ms Heather Steele-Stallard, Mr Daniel Moore, Dr Shilpita Sarcar, Dr Tanel Ozdemir, et al.. High-fidelity modelling of skeletal muscle laminopathies using LMNA-mutant human iPS cells and bioengineered muscles for mutation-specific therapy development. 25th International Congress of the World-Muscle-Society (WMS), Sep 2020, Vituel, United Kingdom. Neuromuscular Disorders, 30, pp.S171, 2020, ⟨10.1016/j.nmd.2020.09.022⟩. ⟨hal-03983805⟩
  • Sahar Elouej, Delamare Marine, Marisa Cappella, Mathilde Cohen-Tannoudji, Stéphanie Astord, et al.. Analysis of off-target effects of Antisense Sequence inducing Exon Skipping in SOD1-linked Amyotrophic Lateral Sclerosis. WMS, Sep 2020, Online, France. ⟨hal-04002555⟩
  • Eline Lemerle, Jeanne Lainé, Gilles Moulay, Anne Bigot, Vincent Mouly, et al.. Role of caveolae in T-tubule biogenesis. Congress of the World Muscle Society, Sep 2020, Virtual, France. ⟨hal-03967986⟩
  • Florent Porquet, L Weidong, K Jehasse, S Blacher, L Massotte, et al.. DMPK promoter silencing by transcriptome editing as a new therapeutic strategy in myotonic dystrophy type 1. 2020 MDF Annual Conference, Sep 2020, Virtual conference, United States. ⟨hal-04022817⟩
  • Diana Mihaela Dincã, Anchel González-Barriga, Sandra Braz, Laure-Elise Pillet, Noémie Cresto, et al.. RNA toxicity in myotonic dystrophy causes pronounced spliceopathy in astrocytes, in association with defective cell adhesion and morphology, erratic migration and impaired polarization. Cold Spring Harbor Laboratory Meeting on Glia in Health and Disease, Jul 2020, Cold Spring Harbor (New York), United States. ⟨hal-04009836⟩
  • Stéphanie Tomé, Janet Ziegle, Yu-Chih Tsai, John Harting, Jean-Paul Bonnefont, et al.. How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients. European Society of Human Genetics Annual Meeting, Jun 2020, Online, France. ⟨hal-04009915⟩
  • A Atalaia, R Thompson, A Corvo, L Carmody, D Piscia, et al.. Treatabolome: a rare diseases treatment awareness project. ESHG 2020.2 - European Human Genetics Virtual Conference, Jun 2020, Virtual conference, United Kingdom. Eur. J. Hum. Genet., 28 (Suppl 1), pp.P18.57.A, 2020. ⟨hal-03983888⟩
  • A Atalaia, R Thompson, A Corvo, L Carmody, D Piscia, et al.. Treatabolome: a rare diseases treatment awareness project. 10th European Conference on Rare Diseases & Orphan Products 2020., May 2020, Virtual conference, Belgium. ⟨hal-03986996⟩
  • Enzo Cohen, Isabelle Nelson, Corine Gartioux, Maud Beuvin, Zaineb Mezdari, et al.. Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy. Solve-RD Annual Meeting, Mar 2020, Barcelona, Spain. ⟨hal-03986992⟩
  • Piera Smeriglio, Aurore Besse, Stéphanie Astord, Benoit Giroux, Thibaut Marais, et al.. AAV9- mediated expression of SMN restricted to neurons does not rescue the spinal muscular atrophy phenotype. 2e congrès scientifique international de SMA Europe, Feb 2020, EVRY, France. ⟨hal-04002484⟩
  • A Hesters, Mdm Amador, R Debs, N Le Forestier, T Lenglet, et al.. Facteurs pronostiques après pose de gastrostomie chez les patients atteints de SLA utilisateurs habituels de VNI : influence du statut respiratoire. Journées Recherche FilSLAN/ARSLA (e-JR6 SLA), 2020, Par visioconférence, France. ⟨hal-04015862⟩
  • Anne T. Bertrand, Astrid Brull, Feriel Azibani, Louise Benarroch, Monika Zwerger, et al.. Haploinsufficiency and dominant negative effects of mutant lamin A/C both contribute to the increased severity of L-CMD compared with EDMD.. 17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseiile, France. ⟨hal-03986960⟩
  • Astrid Brull, Isabelle Nelson, Maud Beuvin, Feriel Azibani, Gisèle Bonne, et al.. Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy. 17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France. ⟨hal-03986971⟩
  • M Gomez-Garcia de la Banda, I Dabaj, R Ben Yaou, N Clarke, A Nascimento, et al.. LES CORTICOIDES ORAUX, UNE OPTION THERAPEUTIQUE DANS LES LAMINOPATHIES CONGENITALES ?. 17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France. ⟨hal-03986950⟩
  • Massiré Traoré. rGDF5, an unexpected treatment against age-related muscle loss. Journées annuelles de la Société Française de Myologie, Nov 2019, Marseille, France. ⟨hal-03997530⟩
  • Alexandra Monceau, Clément Delacroix, Mégane Lemaitre, Gaelle Revet, Denis Furling, et al.. Prox1 gene transfer combined with voluntary exercise improves dystrophic muscle fragility in Mdx mice.. 17th days of French Society of Myology, Nov 2019, Marseille (FRANCE), France. ⟨hal-04011604⟩
  • Astrid Brull, Isabelle Nelson, Maud Beuvin, Gisèle Bonne, Anne T Bertrand. miRNA-processing pathway is impaired in skeletal muscle laminopathies. 17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France. ⟨hal-03986975⟩
  • Enzo Cohen, Isabelle Nelson, Corine Gartioux, Maud Beuvin, Zaineb Mezdari, et al.. Compound heterozygous mutations in the LOXL4 gene: a novel cause of contractural myopathy. 17èmes Journées annuelles de la Société Françasie de Myologie, Nov 2019, Marseille, France. ⟨hal-03986965⟩
  • Charles Frison-Roche, Julien Messéant, Ludovic Arandel, Mégane Lemaitre, Frédérique Rau, et al.. Consequences of impaired MBNL function in motoneurons on the motor unit. Journées de la Société Française de Myologie, Nov 2019, Marseille (13), France. ⟨hal-04002524⟩
  • Stéphanie Bauché, Sureau Alain, Damien Sternberg, Céline Buon, Julien Messeant, et al.. Identification of a new splice site mutation in synaptotagmin-2 responsible for a severe and early presynaptic form of congenital myasthenic syndrome. journées de la société française de myologie, Nov 2019, Marseille (13), France. ⟨hal-03994043⟩
  • Jose Adolfo Villegas, Jerôme van Wassenhove, Judith Merrheim, Karen Matta, Frédérique Truffault, et al.. Beneficial effects of blocking the IL-23/Th17 pathway in a humanized preclinical MG model. sfi 2019, Nov 2019, Nantes, France. ⟨hal-03843606⟩
  • Alexandra Bayer Wildberger, José Villegas, Julien Verdier, Mariette Giannini, Solène Maillard, et al.. Phenotypical and functional characterizations of conditioned Mesenchymal Stromal Cells MSC, as tools for immunomodulation in Myasthenia Gravis. 52ème Meeting de la Société Française d'Immunologie, Nov 2019, Nantes, France. ⟨hal-03038636⟩
  • Judith Merrheim, Jérôme van Wassenhove, Bastien Ducreux, Régine Roussin, Sonia Berrih-Aknin, et al.. Effect of AhR ligands on thymic epithelial cell differentiation and function. SFI 2019, Nov 2019, Nantes, France. ⟨hal-03843650⟩
  • Océane Landon-Cardinal, Kuberaka Mariampillai, Céline Anquetil, Aude Rigolet, Baptiste Hervier, et al.. Chronic disease course and ivig-dependance in long-term follow-up of anti-hmgcr immune-mediated necrotizing myopathy. American College of Rheumatology/Association of Rheumatology Health Professionals Annual Scientific Meeting, ACR/ARHP 2019, Nov 2019, Atlanta, United States. 71 (S10), pp.1-5420, 2019, ⟨10.1002/art.41108⟩. ⟨hal-03831692⟩
  • Océane Landon-Cardinal, Perrine Guillaume-Jugnot, Lois Bolko, Ségolène Toquet, Aude Rigolet, et al.. JAK Inhibitors: A Promising Molecular- targeted Therapy in Dermatomyositis. American College of Rheumatology/Association of Rheumatology Health Professionals Annual Scientific Meeting, ACR/ARHP 2019, Nov 2019, Atlanta, United States. 71 (S10), pp.1-5420, 2019, ⟨10.1002/art.41108⟩. ⟨hal-03831682⟩
  • Pierre Pelliat, Anne-Cécile Durieux, Pascale Guicheney, Marc Bitoun, Damien Freyssenet. Mitochondria and skeletal muscle deconditioning in a mouse model of autosomal dominant centronuclear myopathy. Journées de la Société Française de Myologie, Nov 2019, Marseille, France. 2019. ⟨hal-03968174⟩
  • Marisa Cappella, Thibaut Marais, Stéphanie Astord, Benoit Giroux, Anne Bigot, et al.. AAV-mediated expression of antisense oligonucleotides for the treatment of C9orf72-ALS. 27th ESGCT Congress, Oct 2019, BARCELONE, Spain. ⟨hal-04002234⟩
  • A Brull, I Nelson, M Beuvin, F Azibani, Gisèle Bonne, et al.. Wild-type lamin A overexpression combined with mutant Lmna knock-down extends lifespan in a murine model of LMNA-congenital muscular dystrophy. ESGCT 27th Annual Congress in collaboration with SETGyc Meeting, Oct 2019, Barcelona, Spain. Hum. Gene Ther., 30 (11), pp.P484, 2019. ⟨hal-03983916⟩
  • M Annoussamy, J Baets, W De Ridder, D Duchêne, A Grangé, et al.. Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study. Congress of the World Muscle Society, Oct 2019, Copenhagen, Denmark. 2019. ⟨hal-03968157⟩
  • Fanny Roth, Alexis Boulinguiez, Jamila Dhiab, Negroni Elisa, Vincent Mouly, et al.. Targeting the UPR to resolve ER stress in human OPMD skeletal muscle. Endoplasmic Reticulum 2019, Oct 2019, Paris, France. ⟨hal-04010900⟩
  • M. Beuvin, E. Lacène, C. Labasse, G. Brochier, A. Madelaine, et al.. Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy. 24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S138, 2019, ⟨10.1016/j.nmd.2019.06.359⟩. ⟨hal-03973473⟩
  • T. Stojkovic, A. de Becdelievre, S. Quijano-Roy, V. Jobic, C. Ledeuil, et al.. Sequencing the fibroblasts COL6A1-3 cDNAs versus gene panel genomic DNA in the diagnostic of COLVI related myopathies. 24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. Neuromuscular Disorders, 29, pp.S192-S193, 2019, ⟨10.1016/j.nmd.2019.06.543⟩. ⟨hal-04004872⟩
  • R. Ben Yaou, T. Stojkovic, Mathieu Cerino, F. Duval, R. Juntas-Morales, et al.. LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families. 24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S140, 2019, ⟨10.1016/j.nmd.2019.06.366⟩. ⟨hal-03973478⟩
  • S. Torelli, D. Scaglioni, V. Sardone, J. Domingos, A. Jones, et al.. Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients. 24th International Annual Congress of the World-Muscle-Society (WMS), Oct 2019, Copenhagen, Denmark. 29, pp.S90, 2019, ⟨10.1016/j.nmd.2019.06.199⟩. ⟨hal-03973454⟩
  • Florent Porquet, S Ormenese, F Giroulle, L Massotte, S Freeman, et al.. DMPK promoter silencing by CRISPRi as a new therapeutic strategy in myotonic dystrophy type 1. 2019 MDF annual conference, Sep 2019, Philadelphie, United States. ⟨hal-04022843⟩
  • Luca Pinton, Heather Steele-Stallard, Daniel Moore, Shilpita Sarcar, Tanel Ozdemir, et al.. MODELLING SKELETAL MUSCLE LAMINOPATHIES USING HUMAN iPS CELLS AND BIO-ENGINEERED SKELETAL MUSCLES. 9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom. ⟨hal-03986927⟩
  • Tyler J. Kirby, Ashley J. Earle, Gregory R. Fedorchak, Philipp Isermann, Jineet Patel, et al.. Mechanically-induced nuclear damage and increased p53 signaling lead to myofiber dysfunction in skeletal muscle laminopathies. 9th UK Nuclear Envelope Disease and Chrmatin Organisation Meeting / 3rd International Meeting on Laminopathies, Sep 2019, London, United Kingdom. ⟨hal-03986939⟩
  • Daniel J. Owens, Martina Fischer, Kamel Mamchaoui, Sophie Moog, Gisèle Bonne, et al.. Nuclear export of YAP requires functional LINC complexes in skeletal muscle. Satellite Meeting​ European Network for Laminopathies Meeting, Sep 2019, London, United Kingdom. ⟨hal-03986932⟩
  • Diana Mihaela Dincã, Anchel González-Barriga, Sandra Braz, Cyril F Bourgeois, Géraldine Sicot, et al.. Toxic RNA affects astrocyte adhesion, spreading and migration in myotonic dystrophy, and impacts neuritogenesis through abnormal glial-neuronal interactions. The European Meeting on Glial Cells in Health and Disease, Jul 2019, Porto, Portugal. ⟨hal-04009975⟩
  • Sandra Braz, Raphael Blain, Cyril F Bourgeois, Aline Huguet-Lachon, Alain Schmitt, et al.. Investigating oligodendrocyte dysfunction in DM1 brain disease. The European Meeting on Glial Cells in Health and Disease, Jul 2019, Porto, Portugal. ⟨hal-04010005⟩
  • Céline Anquetil, Joe-Elie Salem, Bénédicte Lebrun-Vignes, Douglas Johnson, Andrew Mammen, et al.. Immune checkpoint inhibitor-associated myositis: a new entity amongst immune inflammatory myopathies with a poor prognosis. IFODS 2019, Jun 2019, Paris, France. ⟨hal-03834301⟩
  • Anchel González-Barriga, Diana Mihaela Dincã, Sandra Braz, Aurélien Cordier, Cerina Chhuon, et al.. Combination of Omics Approaches to Study Molecular Abnormalities in Individual Brain Cell Types of a DM1 Mouse Model. International Myotonic Dystrophy Consortium Meeting (IDMC-12), Jun 2019, Gothenburg, Sweden. . ⟨hal-04009963⟩
  • Ludovic Arandel, Magdalena Matloka, Arnaud Klein, Joelle Marie, Frédérique Rau, et al.. A Decoy-Based Gene Therapy to Inhibit RNA Toxicity Associated with Expanded CUG. International Myotonic Dystrophy Consortium Meeting IDMC-12, Jun 2019, Gothenburg, Sweden. ⟨hal-04002563⟩
  • Florent Porquet, S Ormenese, F Giroulle, L Massotte, S Freeman, et al.. DMPK promoter silencing by CRISPRi as a new therapeutic strategy in myotonic dystrophy type 1. International Myotonic Dystrophy Consortium Meeting IDMC-12, Jun 2019, Gothenburg, Sweden. ⟨hal-04022900⟩
  • Aline Huguet-Lachon, Hélène Benyamine, Noémie Gueriba, Pierre David, Elodie Dandelot, et al.. Refinement of the DMSXL mouse phenotype. International Myotonic Dystrophy Consortium Meeting, Jun 2019, Gothenburg, Sweden. ⟨hal-04010043⟩
  • B Potier, Aline Huguet-Lachon, Geneviève Gourdon, Mário Gomes-Pereira, Patrick Dutar. Glutamate dysfunction at extrasynaptic site in hippocampus of mice model of myotonic dystrophy type 1 (DM1) disease. NeuroFrance, May 2019, Marseille, France. ⟨hal-04009926⟩
  • Veronique Bolduc,, Reghan Foley, A., Herimela Solomon-Degefa,, Apurva Sarathy,, Sandra Donkervoort,, et al.. A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model. 22nd Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Apr 2019, Washington, DC, United States. Molecular Therapy, 27 (4S1), pp.304, 2019, ⟨10.1016/j.ymthe.2019.04.004⟩. ⟨hal-03997046⟩
  • Yves Allenbach, Emmanuelle Salort-Campana, Edoardo Malfatti, Bruno Eymard, Shahram Attarian, et al.. Vacuolar myopathy with monoclonal gammapathy and stiffness: A new Monoclonal gammopathy of muscle significance. GCOM 2019 - Global Conference on Myositis 2019, Mar 2019, Berlin, Germany. , BMC Rheumatology Poster presentation n° P133, 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832060⟩
  • Marion Peyre, Nicolas Champtiaux, Kuberaka Mariampillai, Océane Landon-Cardinal, Mathieu Vautier, et al.. Clinical presentation and outcome in anti-SRP IMNM: french cohort of 54 patients. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832041⟩
  • Nadège Wesner, Akinori Uruha, Shigeaki Suzuki, Kuberaka Mariampillai, Benjamin Granger, et al.. Anti-RNP antibodies delineate a subgroup of necrotizing myositis. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832045⟩
  • Alexandrine Mahoudeau, Leandro Ladislau, Yves Allenbach, Thérèse Croughs, Allia Gati, et al.. Evaluation of the effect of neutralizing anti-IFN-α antibodies produced in one SLE patient vaccinated with IFN-K on myotubes atrophy induced by type I interferon. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832054⟩
  • Gaelle Dzangué-Tchoupou, Yves Allenbach, Corinna Preusse, Werner Stenzel, Olivier Benveniste. Mass cytometry reveals an impairment of B cell homeostasis in Anti-synthetase syndrome. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832069⟩
  • Océane Landon-Cardinal, Kuberaka Mariampillai, Céline Anquetil, Aude Rigolet, Baptiste Hervier, et al.. Chronic disease course and IVIg-dependance in long-term follow-up of anti-HMGCR immune-mediated necrotizing myopathy. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832037⟩
  • Audrey Aussy, Manuel Fréret, Laure Gallay, Laurent Drouot, Fabienne Jouen, et al.. The IgG2 isotype of anti-transcription intermediary factor 1-gamma autoantibodies is a biomarker of mortality and cancer in adult dermatomyositis. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832023⟩
  • Kubéraka Mariampillai, Ségolène Toquet, Yurdagul Uzunhan, Gaelle Leroux, Laure Gallay, et al.. Dermatomyositis with anti-MDA5 auto-antibodies: is there a seasonal pattern of disease onset?. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832031⟩
  • Mathieu Vautier, Pierre Duffau, Olivier Chosidow, Alice Berezne, Nadege Cordel, et al.. Dermatomyositis associated with antibodies to small ubiquitin like modifier activating enzyme: a retrospective series of 41 cases. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832029⟩
  • Barbara Paesler, Laure Gallay, Yves Allenbach, Olivier Benveniste, Nathalie Streichenberger, et al.. Anti-Jo-1 antibody-positive patients show different clinical symptoms, histological features and molecular gene expression compared to anti-PL-7 and anti-PL-12 antibody-positive patients. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832074⟩
  • Olivier Mangin, Jean Philippe Bertocchio, Yves Allenbach, Gerard Maruani, Pascal Houillier, et al.. Creatinine- and cystatin C-estimated glomerular filtration rate for estimating renal function during inclusion body myositis. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832035⟩
  • Camille Rasmussen, Laure Gallay, Alain Meyer, Delphine Larivière, Sarah Leonard-Louis, et al.. Anti-NXP2 Dermatomyositis: a severe muscle and skin disease. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832033⟩
  • Audrey Aussy, Maire Chilles, Laurent Drouot, Fabienne Jouen, Christophe Arnoult, et al.. murin model of anti-TIF1gamma dermatomyositis: preliminary results. Global Conference on Myositis 2019 (GCOM 2019), Mar 2019, Berlin, Germany. 3 (S1), pp.31, 2019, ⟨10.1186/s41927-019-0078-3⟩. ⟨hal-03832032⟩
  • Enzo Cohen, Isabelle Nelson, Valérie Allamand, Maud Beuvin, Corine Gartioux, et al.. The SOLVE-RD project: sharing patients’ data to diagnose rare diseases. 6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-03986811⟩
  • Marisa Cappella, Mathilde Cohen-Tannoudji, Aurore Besse, Anne Bigot, Vincent Mouly, et al.. Gene therapy approach for C9orf72-familial Amyotrophic Lateral Sclerosis to induce degradation of RNA containing repeats. 6th International Congress of Myology, Mar 2019, Bordeaux, France. ⟨hal-04002347⟩
  • Alexandra Bayer Wildberger, Solène Maillard, Julien Verdier, José Villegas, Frédérique Truffault, et al.. Mesenchymal Stromal Cells (MSC) : phenotypical and functional characterizations as tools for immunomodulation in Myasthenia Gravis. Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-02364999⟩
  • Elena Gargaun, Rabah Ben Yaou, Marine Guibaud, Guilhem Solé, Vincent Tiffreau, et al.. Phenotypic and genomic characterization of Becker dystrophy patients with 45 to 55 exons deletion. Sixth internatinal congress of myology Myology2019, Mar 2019, Bordeaux (France), France. ⟨hal-04015218⟩
  • Eline Lemerle, Jeanne Lainé, Gilles Moulay, Anne Bigot, Vincent Mouly, et al.. Role of caveolae in skeletal muscle differentiation. Myology, Mar 2019, Bordeaux, France. 2019. ⟨hal-03968207⟩
  • Magdalena Matloka, Ludovic Arandel, Arnaud Klein, Michel Ney, Alain Sureau, et al.. A decoy-based gene therapy targeting CUGexp-DMPK transcripts in DM1. 6th International Myology Congress, Mar 2019, Bordeaux, France. ⟨hal-04002587⟩
  • Stéphanie Bauché, Damien Sternberg, Julien Messéant, Myriam Boëx, Marie-Christine Nouguès, et al.. Recent advances in french cohort of congenital myasthenic syndromes patients. Myology, Mar 2019, Bordeaux, France. ⟨hal-03994184⟩
  • Anne Forand, Antoine Muchir, Nathalie Mougenot, Caroline Sevoz-Couche, Cécile Peccate, et al.. PPMO pre-treatment is beneficial for AAV-based gene therapy in Duchenne Muscular Dystrophy. Myologie 2019, Mar 2019, Bordeaux, France. ⟨hal-03996969⟩
  • Nicolas Vignier. Transcriptomic analysis of soleus muscle from a mouse model of Emery-Dreifuss muscular dystrophy. MYOLOGY, Mar 2019, Bardeaux, France. ⟨hal-04012925⟩
  • Xavière Lornage, Raphaël Schneider, Chrystel Chéraud, Edoardo Malfatti, Vanessa Schartner, et al.. Myocapture: a large-scale sequencing project to identify novel genes for myopathies. Myologie 2019, Mar 2019, Bordeaux, France. ⟨hal-04029248⟩
  • Maximilien Sochala, Raphaël Porcher, Tanya Stojkovic, Henri Marc Bécane, Anthony Béhin, et al.. High Risk of Fatal and Non-Fatal Venous Thromboembolism in Myotonic Dystrophy. 6th International Congress of Myology, Mar 2019, Bordeaux, France. ⟨hal-04020135⟩
  • Ashling Holland, Arnaud F Klein, Miguel Varela, R. Raz, Mike Gait, et al.. Global Analysis of Peptide-PMO as a Therapeutic Modulator for Myotonic Dystrophy Type 1. 6th International Congress of Myology, Mar 2019, Bordeaux, France. ⟨hal-04020127⟩
  • Ashling Holland, Arnaud F Klein, Miguel Varela, R. Raz, Mike J Gait, et al.. Peptide-PMO as a Therapeutic Modulator for Myotonic Dystrophy Type 1. 6th International Congress of Myology, Mar 2019, Bordeaux, France. ⟨hal-04000595⟩
  • Mirella Lo Scrutado, Karine Poulard, C. Sourd, Stéphanie Tomé, Arnaud F Klein, et al.. In vivo genome editing mediates resection of the CTG repeat expansion and decreases pathological signs in a mouse model of myotonic dystrophy type 1. 6th International Congress of Myology, Mar 2019, Bordeaux, France. ⟨hal-04020115⟩
  • Jessy Etienne, Pierre Joanne, Alexandra Bayer, Cyril Catelain, Stéphanie Riveron, et al.. Characterization of aldehyde dehydrogenase isoenzymes in Man, Macaque and Dog skeletal muscles. Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-02364988⟩
  • Anne T. Bertrand, Astrid Brull, Feriel Azibani, Bruno Cadot, Monika Zwerger, et al.. Maintenance of nucleoplasmic lamin A/C during myoblast differentiation induces nuclear fusion in LMNA-related congenital myopathy. 6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-03986752⟩
  • Arnaud F. Klein, Miguel A. Varela, Ludovic Arandel, Ashling Holland, Naira Naouar, et al.. Low-dose of peptide-conjugate antisense oligonucleotides targeting CUGexp-RNA in murine skeletal muscles normalizes Myotonic Dystrophy 1 phenotype. 6th International Congress of Myology, Mar 2019, Bordeaux, France. ⟨hal-04000552⟩
  • Astrid Brull, Isabelle Nelson, Maud Beuvin, Feriel Azibani, Gisèle Bonne, et al.. Gene therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD). 6th International meeting of Myology - Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-03986729⟩
  • Delphine Trochet, Bernard Prudhon, Arnaud Ferry, Marc Bitoun. Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy. Myology, Mar 2019, Bordeaux, France. 2019. ⟨hal-03968190⟩
  • Jean-François Darrigrand, M Valente, P Martinez, G Comai, M Petit, et al.. The dullard-dependent regulation of BMP signaling in heart outflow tract septation. Myology, Mar 2019, Bordeaux, France. 2019. ⟨hal-03968229⟩
  • Laura Muraine, Jamila Dhiab, Mona Bensalah, Gonzalo Cordova, Alison Oliver, et al.. Transduction efficiency of AAV1 to 10 serotypes after local intramuscular injetion in mouse and in human xenograft. Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-04010878⟩
  • Fanny Roth, Jamila Dhiab, Saskia Lassche, Alison Oliver, Jeanne Lainé, et al.. PABPN1 nuclear aggregates in oculopharyngeal muscular dystrophy: does age and genotype matters?. Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-04010890⟩
  • Fanny Roth, Alberto Malerba, Jamila Dhiab, Gillian S. Butler-Browne, Cécile Voisset, et al.. Guanabenz acetate treatment improves oculopharyngeal muscular dystrophy, a protein aggregate disease.. Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-04010884⟩
  • Elisa Negroni, Anne Bigot, Kamel Mamchaoui, Mona Bensalah, Laura Muraine, et al.. Human models to test therapeutic strategies for neuromuscular disorders. Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-04010095⟩
  • Mona Bensalah, Laura Muraine, Victorine Albert, Alison Oliver, Teresa Gidaro, et al.. Deciphering the nature and role of interstitial non-myogenic cells in fibrotic and dystrophic human muscles. Myology 2019, Mar 2019, Bordeaux, France. ⟨hal-04010080⟩
  • Elena Gargaun, Rabah Ben Yaou, Guilhem Solé, Vincent Tiffreau, Pascale Laforet, et al.. Caractérisation phénotypique et génomique des patients Becker avec délétion des exons 45-55. 29ème Congrès de la Société Française de Neurologie Pédiatrique, Jan 2019, Strasbourg (FRANCE), France. ⟨hal-04015227⟩
  • Julien Verdier, Frédérique Truffault, Anthony Behin, Catherine Blanc, Rozen Le Panse, et al.. Characterization of circulating immune cells in a rare autoimmune disease: Myasthenia gravis. Annual Meeting of the French Society for Immunology, 2019, Nantes, France. ⟨hal-03861850⟩
  • R Guimarães-Costa, Mc Niérat, I Rivals, C Morélot-Panzini, Nb Romero, et al.. Diaphragm pacing impairs local myofiber reinnervation in Amyotrophic Lateral Sclerosis. ALS-MND congress, 2019, Perth (Australia), Australia. ⟨hal-04015875⟩
  • Cloé Payet, Frédérique Truffault, Claire Lefeuvre, Vincent Bondet, Darragh Duffy, et al.. Study of interferon type I signature in myasthenia gravis. EMBO Workshop - Cell death in immunity and inflammation, 2019, Crète, Greece. ⟨hal-03861828⟩
  • Myriam Boex, Julien Messéant, Stéphanie Bauché, Marius. Halliez, Bertrand Fontaine, et al.. A new Vangl2/MuSK signaling pathway promotes neuromuscular junction formation by enhancing postsynaptic assembly and motor axon growth stop. 6th International Congress of Myology, France, 2019, Bordeaux (France), France. ⟨hal-04002674⟩
  • Cloé Payet, Frédérique Truffault, Claire Lefeuvre, Vincent Bondet, Darragh Duffy, et al.. Study of interferon type I signature in myasthenia gravis. Annual Meeting of the French Society for Immunology, 2019, Nantes, France. ⟨hal-03879620⟩
  • J Messéant, M Boex, S Bauché, A Dobbertin, C Legay, et al.. Wnt/MuSK/ß-catenin signaling: a complex regulator of neuromuscular connectivity. 6th International Congress of Myology, France, 2019, Bordeaux (France), France. ⟨hal-04002695⟩
  • Marisa Cappella, Mathilde Cohen-Tannoudji, Thibaut Marais, Stéphanie Astord, Aurore Besse, et al.. Gene therapy approaches for familial ALS. 29th International Symposium on ALS/MND, Dec 2018, Glagow, United Kingdom. ⟨hal-04002320⟩
  • Nicolas Vignier. Le nicotinamide riboside améliore la fonction cardiaque d’un modèle murin de cardiomyopathie dilatée due à des mutations du gène LMNA.. Journée de la societe française de Myologie, Nov 2018, Brest, France. ⟨hal-04012945⟩
  • Yves Allenbach, Yurdagul Uzunhan, Ségolène Toquet, Gaëlle Leroux, Laure Gallay, et al.. Moving from Dermatomyositis Associated with Anti-MelanomaDifferentiation-Associated Gene 5 Antibody to Anti-MelanomaDifferentiation-Associated Gene 5 Syndrome. American College of Rheumatology/Association of Rheumatology Health Professionals Annual Scientific Meeting, ACR/ARHP 2018, Oct 2018, Chicago, United States. 70, pp.1-3584, 2018, ⟨10.1002/art.40700⟩. ⟨hal-03831335⟩
  • Yannick Dieudonné, Yves Allenbach, Olivier Benveniste, Sarah Léonard-Louis, Baptiste Hervier, et al.. Granulomatous Myositis: Heterogeneity and Response to Treatment. American College of Rheumatology/Association of Rheumatology Health Professionals Annual Scientific Meeting, ACR/ARHP 2018, Oct 2018, Chicago, United States. 70, pp.1-3584, 2018, ⟨10.1002/art.40700⟩. ⟨hal-03831339⟩
  • Océane Landon-Cardinal, Damien Bachasson, Perrine Guillaume, Mathieu Vautier, Nicolas Champtiaux, et al.. Physical Activity Monitoring Using Wrist-Worn Accelerometer in theAssessment and Follow-up of Patients with Myositis. American College of Rheumatology/Association of Rheumatology Health Professionals Annual Scientific Meeting, ACR/ARHP 2018, Oct 2018, Chicago, United States. 70, pp.1-3584, 2018, ⟨10.1002/art.40700⟩. ⟨hal-03831348⟩
  • Marisa Cappella, Mathilde Cohen-Tannoudji, Thibaut Marais, Stéphanie Astord, Aurore Besse, et al.. AAV-mediated gene therapy for fALS. 26th ESGCT Congress, Oct 2018, Lausanne, Switzerland. ⟨hal-04002264⟩
  • F Azibani, A Brull, L Arandel, M Beuvin, I Nelson, et al.. Gene therapy via trans-splicing for LMNA-related congenital muscular dystrophy. Conference on Changing the Face of Modern Medicine - Stem Cell and Gene Therapy, Oct 2018, Lausanne, Switzerland. Hum. Gene Ther., 29 (12), pp.A138. P379, 2018. ⟨hal-03983935⟩
  • Massiré Traoré. Cavβ1: The missing link from voltage sensing to muscle mass homeostasis. 15th Interuniversity Institute of Myology Meeting, Pathogenesis and Therapies of Neuromuscular Diseases, Oct 2018, Assise, Italy. ⟨hal-03997593⟩
  • E. Malfatti, R. Avila-Polo, X. Lornage, I. Nelson, J. Nectoux, et al.. Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies. 23rd International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza, Argentina. Neuromuscular Disorders, 28, pp.S104-S105, 2018, ⟨10.1016/j.nmd.2018.06.289⟩. ⟨hal-03973451⟩
  • H Tasfaout, S Buono, I Prokic, J Ross, C Kretz, et al.. Targeting dynamin 2 rescues the three main forms of centronuclear myopathies. Congress of the World Muscle Society, Oct 2018, Mendoza, Argentina. 2018. ⟨hal-03968261⟩
  • I. Nelson, W. de Ridder, B. Asselbergh, B. de Paepe, M. Beuvin, et al.. BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders. 23rd International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza, Argentina. Neuromuscular Disorders, 28, pp.S59-S60, 2018, ⟨10.1016/j.nmd.2018.06.128⟩. ⟨hal-03973447⟩
  • M. Annoussamy, A. Grangé, C. Lilien, V. Chê, D. Duchêne, et al.. Baseline characteristics of patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study. Congress of the World Muscle Society, Oct 2018, Mendoza, Argentina. 2018. ⟨hal-03968282⟩
  • Jr. Hogrel, C. Chéraud, I. Ledoux, G. Ollivier, R. Ben Yaou, et al.. The diagnostic value of hyperCKemia induced by the non-ischemic forearm exercise test. 25th International Annual Congress of the World-Muscle-Society (WMS), Oct 2018, Mendoza (Argentina), France. 28, pp.S138, 2018, ⟨10.1016/j.nmd.2018.06.406⟩. ⟨hal-04015249⟩
  • M Traoré, C Benedetto, P de la Grange, J.Y. Hogrel, France Piétri‐rouxel, et al.. CaVb1: The missing link from voltage sensing to muscle mass homeostasis. Molecular mechanisms of muscle wasting during aging and disease, Sep 2018, Ascona (CH), Switzerland. ⟨hal-04002366⟩
  • Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Michel Fardeau, Emmanuelle Lacène, et al.. Mutations in GFPT1-related congenital myasthenic syndromes underlie a tubular aggregates myopathy with synaptopathy. international congress of neuromuscular diseases, Jul 2018, Vienna (Austria), Austria. ⟨hal-03994257⟩
  • Megan A. Waldrop, Rabah Ben Yaou, Karin K. Lucas, Ann Martin, Erin O’rourke, et al.. Clinical phenotypes as predictors of DMD exon 51 skipping therapy: a systematic review. 2018 New Directions in Biology and Disease of Skeletal Muscle Conference, Jun 2018, New Orleans, Louisiane, United States. ⟨hal-04015230⟩
  • Mona Bensalah, Laura Muraine, Victorine Albert, Gonzalo Cordova, Alison Oliver, et al.. Peculiar behavior of interstitial non myogenic cells from human fibrotic muscle. 11th Japanese-French Workshop “New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology”, Jun 2018, Tokyo, Japan. ⟨hal-04010053⟩
  • Elodie Dandelot, Stéphanie Tomé, Céline Guiraud-Dogan, Yann Péréon, Pascal Cintas, et al.. Atypical Myotonic Dystrophy type 1 families and CTG repeats interruptions. Young Researchers of Imagine Institute, May 2018, Paris, France. ⟨hal-04010074⟩
  • José Adolfo Villegas, Rémi Khansa, Jerôme van Wassenhove, Katia Ider, Régine Roussin, et al.. AhR activation in thymic epithelial cells can modify immune tolerance process. Autoimmunity 2018, May 2018, Lisbonne, Portugal. ⟨hal-03843522⟩
  • Fanny Roth, Gillian S. Butler-Browne, Capucine Trollet. Guanabenz acetate treatment improves oculopharyngeal muscular dystrophy, a protein aggregate disease. Journée Boris Ephrussi, May 2018, Paris, France. ⟨hal-04010019⟩
  • Mona Bensalah, Laura Muraine, Victorine Albert, Gonzalo Cordova, Alison Oliver, et al.. Peculiar behavior of interstitial non myogenic cells from human fibrotic muscle. Journée Boris Ephrussi, May 2018, Paris, France. ⟨hal-04010008⟩
  • Stéphanie Tomé, Elodie Dandelot, Céline Guiraud-Dogan, Alexis Bertrand, David Geneviève, et al.. Unusual association of an unique CAG interruption in 5’ of DM1 CTG repeats with intergenerational contraction and low somatic mosaicism. International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri, Italy. ⟨hal-04010176⟩
  • Elodie Dandelot, Stéphanie Tomé, Geneviève Gourdon. Analyze the role of interruptions in triplet nucleotide repeats diseases: cellular model strategy and Flash-Small-Pool-PCR. International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri, Italy. ⟨hal-04010160⟩
  • V. Sardone, J. Domingos, S. Torelli, A. Jones, M. Ellis, et al.. Dystrophin quantification in Duchenne and Becker muscular dystrophy: correlation between dystrophin protein and clinical phenotype. 11th UK Neuromuscular Translational Research Conference, Apr 2018, Cambridge, United Kingdom. Neuromuscular Disorders, 28, pp.S7-S8, 2018, ⟨10.1016/S0960-8966(18)30310-9⟩. ⟨hal-03973445⟩
  • Mona Bensalah, Laura Muraine, Victorine Albert, Gonzalo Cordova, Alison Oliver, et al.. Peculiar behavior of interstitial non myogenic cells from human fibrotic muscle. Muscle Development, Regeneration and Disease, Apr 2018, Berlin, Germany. ⟨hal-04009925⟩
  • Laura Muraine, Jamila Dhiab, Mona Bensalah, Gonzalo Cordova, Alison Oliver, et al.. Transduction efficiency of AAV serotypes after intramuscular injection. Muscle Development, Regeneration and Disease, Apr 2018, Berlin, Germany. ⟨hal-04009953⟩
  • Anne Bigot, Kamel Mamchaoui, Mona Bensalah, Capucine Trollet, Vincent Mouly, et al.. Human models to test therapeutic strategies for neuromuscular diseases. Muscle Development, Regeneration and Disease, Apr 2018, Berlin, Germany. ⟨hal-04009959⟩
  • Isabelle Nelson, Maud Beuvin, Rabah Ben-Yaou, Cecile Masson, Anne Boland, et al.. Nouvelle mutation d’épissage du gène POPDC1 (BVES) associée à des blocs de conduction cardiaque du 1er degré et une dystrophie musculaire. 9èmes Assises de génétique humaine et médicale, Jan 2018, Nantes, France. . ⟨hal-03986833⟩
  • Mélanie Cron, Solène Maillard, Frédérique Truffault, Ambra Vittoria Gualeni, Annunziata Gloghini, et al.. Role of miR-150 in autoimmune Myasthenia Gravis. 11th International Congress on Autoimmunity, 2018, Lisbonne, Portugal. ⟨hal-03861704⟩
  • Mona Bensalah, Laura Muraine, Fanny Roth, Victorine Albert, Alison Oliver, et al.. Nature and role of interstitial non myogenic cells in human fibrotic muscles. Muscle Wasting Conference, 2018, Ascona, Italy. ⟨hal-04009745⟩
  • Julien Verdier, Frédérique Truffault, Bruno Eymard, Catherine Blanc, Rozen Le Panse, et al.. Characterization of circulating immune cells in Myasthenia gravis using mass cytometry. MYOLOGY 2018, 2018, Bordeaux, France. ⟨hal-03861860⟩
  • M Boex, J Messéant, S Bauché, B Fontaine, L Strochlic. Role of Vangl2, a core component of the Wnt Planar cell Polarity pathway during neuromuscular junction formation. 15th International Congress on Neuromuscular Diseases, 2018, Vienne (Autriche), Austria. ⟨hal-04002728⟩
  • Julie Chassagne, Laura Julien, Cécile Peccate, Stéphanie Lorain, France Piétri-Rouxel, et al.. RFX1 and RFX3 Transcription Factors Interact with the D Sequence of Adeno-Associated Virus Inverted Terminal Repeat and Regulate AAV Transduction. European Society of Gene and Cell Therapy, 2018, Lausanne, Switzerland. 2018. ⟨hal-03968317⟩
  • Julien Verdier, Frédérique Truffault, Bruno Eymard, Rozen Le Panse, Sonia Berrih-Aknin. Characterization of circulating immune cells in a rare autoimmune disease: Myasthenia gravis. Congrès Annuel de l'AFC - Cytométrie 2018, 2018, Lyon, France. ⟨hal-03861835⟩
  • Julien Verdier, Frédérique Truffault, Bruno Eymard, Catherine Blanc, Aurélien Corneau, et al.. Characterization of circulating immune cells in a rare autoimmune disease: Myasthenia gravis. Single Cell Symposium, 2018, Paris, France. ⟨hal-03861844⟩
  • K Piekarowicz, M Beuvin, M Machowska, A Bertrand, Gisèle Bonne, et al.. A muscle hybrid promoter provides specific and effective gene expression after intramuscular and systemic delivery with AAV. European-Society-of-Gene-and-Cell-Therapy (ESCGT) Congress, Oct 2017, Berlin, Germany. Hum. Gene Ther., 28 (12), pp.A44-A45. P096, 2017. ⟨hal-03983944⟩
  • R. Ben Yaou, I. Dabaj, P. Yun, G. Norato, H. Xiong, et al.. First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study. 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S137-S138, 2017, ⟨10.1016/j.nmd.2017.06.165⟩. ⟨hal-03973439⟩
  • R. Rossi, C. Scotton, P. Barton, R. Buchan, R. Walsh, et al.. POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?. 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S140, 2017, ⟨10.1016/j.nmd.2017.06.173⟩. ⟨hal-03973396⟩
  • A. Reghan Foley, S. Donkervoort, V. Bolduc, Y. Hu, B. Cummings, et al.. A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy.  22nd International Annual Congress of the World Muscle Society, Oct 2017, Saint-Malo, France. Neuromuscular Disorders, 27, pp.S106, 2017, ⟨10.1016/j.nmd.2017.06.055⟩. ⟨hal-03996972⟩
  • A. Guiraud, N. Couturier, V. Buchman, A. Durieux, D. Arnould, et al.. Sh3kbp1 involvement during skeletal muscle fibers formation: a new candidate for centronuclear myopathies. Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017. ⟨hal-03968370⟩
  • I. Nelson, M. Beuvin, R. Ben-Yaou, C. Masson, A. Boland, et al.. Novel recessive splice site mutation in POPDC1 ( BVES ) is associated with first-degree atrioventricular block and muscular dystrophy. 22nd International Annual Congress of the World Muscle Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S139-S140, 2017, ⟨10.1016/j.nmd.2017.06.172⟩. ⟨hal-03972940⟩
  • Camila F Almeida, Marc Bitoun, Mariz Vainzof. Satellite cell alteration in DNM2-related centronuclear myopathy. Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017. ⟨hal-03968329⟩
  • Aurore Besse, Mariane Roda, Stéphanie Astord, Thibaut Marais, Maria Grazia Biferi, et al.. AAV9-mediated SMN expression restricted to the CNS does not rescue SMA mice.. 22nd World Muscle Society Congress, Oct 2017, Saint Malo, France. ⟨hal-04003302⟩
  • C. Macquart, M. Chatzifrangkeskou, M. Gotthardt, Gisèle Bonne, A. Muchir. Abnormal trafficking of connexin 43: A key element in the development of LMNA cardiomyopathy. 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S139, 2017, ⟨10.1016/j.nmd.2017.06.171⟩. ⟨hal-03973377⟩
  • I. Nelson, M. Jacquemont, A. Urtizberea, M. Renouil, A. Boland, et al.. A novel INPP5K mutation in a sibship from the Reunion Island. 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S110-S111, 2017, ⟨10.1016/j.nmd.2017.06.071⟩. ⟨hal-03973393⟩
  • Mathieu Cerino, Svetlana Gorokhova, P. Laforêt, R. Ben Yaou, Emmanuelle Salort-Campana, et al.. Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing. 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. 27, pp.S149, 2017, ⟨10.1016/j.nmd.2017.06.205⟩. ⟨hal-03973434⟩
  • Sestina Falcone, C. Benedetto, M Traoré, P. de la Grange, A. Ferry, et al.. From voltage sensing to gene expression in the control of muscle mass homeostasis. 22nd World Muscle Society Congress, Oct 2017, Saint-Malo (France), France. ⟨hal-04002388⟩
  • A. González-Jamett, X. Baez-Matus, M. Bui, P. Guicheney, N. Romero, et al.. Centronuclear myopathy-causing mutations in dynamin-2 impair actin-dependent trafficking in muscle cells. Congress of the World Muscle Society, Oct 2017, Saint Malo, France. 2017. ⟨hal-03968391⟩
  • M. Saunier, C. Gartioux, M. Beuvin, N. Mougenot, G. Bonne, et al.. Collagen VI deficiency: The heart of the matter. 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint-Malo, France. Neuromuscular Disorders, 27, pp.S106, 2017, ⟨10.1016/j.nmd.2017.06.057⟩. ⟨hal-03996987⟩
  • I. Dabaj, R. Ben Yaou, C. Bönnemann, A. Nascimento, A. Rutkowski, et al.. Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies. 22nd International Annual Congress of the World-Muscle-Society (WMS), Oct 2017, Saint Malo, France. Neuromuscular Disorders, 27, pp.S138, 2017, ⟨10.1016/j.nmd.2017.06.167⟩. ⟨hal-03973411⟩
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Vidéos1 document

  • Gisèle Bonne. Présentation des actions Recherche de la Filière en Santé Maladies Rares Neuromusculaires - FILNEMUS. 2023. ⟨hal-04000635⟩

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