1720 documents
- Dimitrios Kourtzas, Rocio Nur Villar-Quiles, Satish Moparthi, C Gartioux, Stéphane Vassilopoulos, et al.. Refined pro-fibrotic cellular models for detailed extracellular matrix analysis in collagen VI-related dystrophies. 8th International Congress in Myology, Apr 2024, Paris, France. ⟨hal-04602727⟩
- 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⟩
- 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⟩
- 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⟩
- 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⟩
- 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⟩
- 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⟩
- 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⟩
Documents récupérés de l'archive ouverte HAL 