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Molecular Genetics & Genomic Medicine|August 21, 2020
Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophyKelly A Rich, Tia Moscarello, Carly Siskind, et al.European Journal of Neurology|November 28, 2023
Lenalidomide in the treatment of anti-myelin-associated glycoprotein neuropathy: A phase 1 study to identify the maximum tolerated doseAmro M Stino, Naresh Bumma, Rachel Smith, et al.BMJ Neurology Open|September 1, 2021
Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersenW David Arnold, Steven Severyn, Songzhu Zhao, et al.Muscle & Nerve|August 26, 2010
Compound muscle action potential and motor function in children with spinal muscular atrophyAga Lewelt, Kristin J Krosschell, Charles Scott, et al.Annals of Neurology|February 22, 2026
Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular DystrophyKarlien Mul, Michael P McDermott, Russell J Butterfield, et al.Muscle & Nerve|September 18, 2009
An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophyBakri Elsheikh, Thomas Prior, Xiaoli Zhang, et al.Journal of Neuromuscular Diseases|November 15, 2021
Neurofilament Levels in CSF and Serum in an Adult SMA Cohort Treated with NusinersenKelly A Rich, Ashley Fox, Mehmet Yalvac, et al.Plos One|May 15, 2009
Phase II open label study of valproic acid in spinal muscular atrophyKathryn J Swoboda, Charles B Scott, Sandra P Reyna, et al.Muscle & Nerve|May 18, 2013
SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophyJohn T Kissel, Bakri Elsheikh, Wendy M King, et al.Neuromuscular Disorders : NMD|February 20, 2025
Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophyLeo H Wang, Maya N Hatch, Michael P McDermott, et al.Pageof 4