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Neuromuscular Disorders : NMD|February 9, 2021
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathySchaida Schirwani, Anna Sarkozy, Rahul Phadke, et al.
Neuromuscular Disorders : NMD|February 10, 2021
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophyTakatoshi Sato, Hiroyuki Awano, Kumiko Ishiguro, et al.
Neuromuscular Disorders : NMD|February 21, 2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same diseaseUrsula Moore, Heather Gordish, Jordi Diaz-Manera, et al.
Neuromuscular Disorders : NMD|September 1, 2019
Autosomal recessive Bethlem myopathy: A clinical, genetic and functional studyFilomena Caria, Matilde Cescon, Francesca Gualandi, et al.
Neuromuscular Disorders : NMD|September 22, 2019
High incidence of falls in patients with myotonic dystrophy type 1 and 2: A prospective studyJoost Berends, Alide A Tieleman, Corinne G C Horlings, et al.
Neuromuscular Disorders : NMD|September 28, 2019
Development of an academic disease registry for spinal muscular atrophyEugenio Mercuri, Richard Finkel, MariaCristina Scoto, et al.
Neuromuscular Disorders : NMD|March 4, 2019
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyNitamarie Vorster, Kerry Evans, Nada Murphy, et al.
Neuromuscular Disorders : NMD|December 23, 2021
Cutaneous T-cell lymphoma mimicking myopathy with lipoatrophyMiriam Hiebeler, Markus Reinholz, Michael Flaig, et al.
Neuromuscular Disorders : NMD|August 6, 2019
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmissionStefan Nicolau, Teerin Liewluck, Xin-Ming Shen, et al.
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