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Journal of Neuromuscular Diseases|July 8, 2025
REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in FranceLamiae Grimaldi, Rocio Garcia-Uzquiano, Marta Gomez-Garcia de la Banda, et al.Journal of Neurology|March 22, 2024
Phenotype variability and natural history of X-linked myopathy with excessive autophagyGorka Fernández-Eulate, Girolamo Alfieri, Marco Spinazzi, et al.International Journal of Molecular Sciences|December 17, 2024
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only ExonsAurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic, et al.Neuromuscular Disorders : NMD|November 13, 2025
Novel missense variants associated with GNE myopathyJohanna Ranta-Aho, Viviana Cetrangolo, Luca Bello, et al.European Heart Journal|December 13, 2016
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1Karim Wahbi, Dominique Babuty, Vincent Probst, et al.Journal of the American Heart Association|August 15, 2023
Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular DystrophyAbdallah Fayssoil, Nicolas Mansencal, Lee S Nguyen, et al.Human Mutation|February 2, 2017
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsAndoni Echaniz-Laguna, Thomas Geuens, Philippe Petiot, et al.American Journal of Human Genetics|September 1, 2009
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophyLucie Gueneau, Anne T Bertrand, Jean-Philippe Jais, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 14, 2021
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotypeMenelaos Pipis, Andrea Cortese, James M Polke, et al.The Lancet. Neurology|October 13, 2009
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trialJoëlle Micallef, Shahram Attarian, Odile Dubourg, et al.Pageof 25