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Neuromuscular Disorders : NMD|June 29, 2026
Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patientsSolène Conrad, Claire Toquet, Mélanie Fradin, et al.Journal of Neurology|March 2, 2026
Electrophysiological assessment of motor unit loss in adult spinal muscular atrophy types III and IV: a multicenter national study comparing MUNIX, CMAP, and MUSIXEva Sole-Cruz, Emmanuelle Salort-Campana, Timothee Lenglet, et al.Neuroimage. Clinical|December 8, 2018
The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging studyGiorgia Querin, Mohamed-Mounir El Mendili, Timothée Lenglet, et al.European Journal of Neurology|September 4, 2025
Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)Rémy Dumas, Anne-Sophie Jannot, Nabila Elarouci, et al.Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.Journal of Neurology|May 26, 2026
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2Carla F Bolano-Diaz, Jose Verdu-Diaz, Dan Hao, et al.Neurology. Genetics|July 20, 2023
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular AtrophyGorka Fernández-Eulate, Julian Theuriet, Christopher J Record, et al.European Journal of Neurology|March 14, 2021
Deep phenotyping of an international series of patients with late-onset dysferlinopathyGorka Fernández-Eulate, Giorgia Querin, Ursula Moore, et al.Journal of Neurology|July 17, 2017
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathyStéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, et al.The Lancet. Rheumatology|January 26, 2024
Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trialOlivier Benveniste, Jean-Yves Hogrel, Lisa Belin, et al.Pageof 25