1697 documents
- 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⟩
- 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⟩
- Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, et al.. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy, Neuromuscular Disorders, 36, pp.16-22, 2024, ⟨10.1016/j.nmd.2024.01.001⟩. ⟨hal-04475094⟩
- 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⟩
- Sanzana Hoque, Marie Sjögren, Valérie Allamand, Kinga Gawlik, Naomi Franke, et al.. Skeletal muscle regeneration is altered in the R6/2 mouse model of Huntington’s disease. 2024. ⟨hal-04433140⟩
- 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⟩
- 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, 2024, 50 (1), ⟨10.1111/nan.12952⟩. ⟨hal-04409827⟩
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