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Annals of Neurology|January 23, 2015
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45Andrew R Findlay, Nicolas Wein, Yuuki Kaminoh, et al.
Brain : a Journal of Neurology|June 25, 2024
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestationsGage P Kosmanopoulos, Jack K Donohue, Maya Hoke, et al.
The New England Journal of Medicine|November 2, 2017
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular AtrophyRichard S Finkel, Eugenio Mercuri, Basil T Darras, et al.
Plos One|March 20, 2018
Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophyAlison M Barnard, Rebecca J Willcocks, Erika L Finanger, et al.
JAMA Neurology|April 5, 2016
Phenotypic Variability of Childhood Charcot-Marie-Tooth DiseaseKayla M D Cornett, Manoj P Menezes, Paula Bray, et al.
Annals of Clinical and Translational Neurology|September 12, 2019
Dominant collagen XII mutations cause a distal myopathyPayam Mohassel, Teerin Liewluck, Ying Hu, et al.
Muscle & Nerve|April 27, 2019
Balance impairment in pediatric charcot-marie-tooth diseaseTimothy Estilow, Allan M Glanzman, Joshua Burns, et al.
Neuromuscular Disorders : NMD|January 2, 2018
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional careEugenio Mercuri, Richard S Finkel, Francesco Muntoni, et al.
The New England Journal of Medicine|August 13, 2025
Risdiplam in Presymptomatic Spinal Muscular AtrophyRichard S Finkel, Laurent Servais, Dmitry Vlodavets, et al.
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