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Journal of the American College of Cardiology|October 6, 2022
Cardiac Outcomes in Adults With Mitochondrial DiseasesKonstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, et al.Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.European Journal of Neurology|August 1, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral NeuropathyPauline Jaubert, Camille Loret, Tanya Stojkovic, et al.Brain : a Journal of Neurology|June 10, 2025
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in EuropeGorka Fernández-Eulate, Cyril Gitiaux, Simone Thiele, et al.Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.Brain : a Journal of Neurology|March 13, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohortAlexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, et al.Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.Neurology. Genetics|July 31, 2025
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction AnalysisCarla Florencia Bolano-Diaz, Harmen Reyngoudt, Ian J Wilson, et al.European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.Pageof 25