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Journal of Neurology|November 29, 2019
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patientsClaudia Brogna, Lara Cristiano, Tommaso Verdolotti, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein AggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Neuromuscular Disorders : NMD|November 16, 2019
MYO-MRI diagnostic protocols in genetic myopathiesJodi Warman Chardon, Jordi Díaz-Manera, Giorgio Tasca, et al.
Neuromuscular Disorders : NMD|June 29, 2025
Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world dataMark Richardson, Virginie Kinet, Karen Wong, et al.
Brain : a Journal of Neurology|October 28, 2025
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving diseaseAdriana Amaro, Francesco Reggiani, Chiara Panicucci, et al.
Annals of Clinical and Translational Neurology|July 24, 2023
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathyPayam Mohassel, Pomi Yun, Safoora Syeda, et al.
Acta Neuropathologica|June 21, 2019
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathyJacob A Ross, Yotam Levy, Michela Ripolone, et al.
Cell Death & Disease|September 6, 2023
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlationsXavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, et al.
Journal of Neurology|September 27, 2019
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)Andrea Barp, Pascal Laforet, Luca Bello, et al.
American Journal of Human Genetics|September 27, 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAntonella Sferra, Gilbert Baillat, Teresa Rizza, et al.
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