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Neuromuscular Disorders : NMD|December 3, 2014
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous familyGiovanni Baranello, Simona Saredi, Serena Sansanelli, et al.
Neuromuscular Disorders : NMD|December 3, 2014
Clinical and electrophysiological features in a French family presenting with seipinopathyYolaine Ollivier, Armelle Magot, Philippe Latour, et al.
Neuromuscular Disorders : NMD|December 3, 2014
Myotonic discharges discriminate chloride from sodium muscle channelopathiesGea Drost, Bas C Stunnenberg, Jeroen Trip, et al.
Neuromuscular Disorders : NMD|October 21, 2015
Neuronal nitric oxide synthase localizes to utrophin expressing intercalated discs and stabilizes their structural integrityJ Patrick Gonzalez, Pierre-Antoine Crassous, Joel S Schneider, et al.
Neuromuscular Disorders : NMD|June 15, 2016
Progression from respiratory dysfunction to failure in late-onset Pompe diseaseKenneth I Berger, Yinny Chan, William N Rom, et al.
Neuromuscular Disorders : NMD|June 18, 2016
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathiesRenata Siciliani Scalco, Alice R Gardiner, Robert D S Pitceathly, et al.
Neuromuscular Disorders : NMD|August 24, 2015
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2Justin D Wagner, Lijia Huang, Martine Tetreault, et al.
Neuromuscular Disorders : NMD|August 24, 2015
Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patientsTakahiro Motoki, Yuko Shimizu-Motohashi, Hirofumi Komaki, et al.
Neuromuscular Disorders : NMD|April 23, 2016
Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system?Maria Del Mar Amador, Nadia Vandenberghe, Nawel Berhoune, et al.
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