Results 141 to 150 of about 2,944 (151)

Nonaka myopathy with facial muscle involvement

, 2003
Zhao Wang
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Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

Nature Communications, 2013
Eric J Horstick, Jeremy W Linsley, Allison Ashley-Koch   +2 more
exaly  

Novel mutations in GNE gene in Chinese patients with Nonaka myopathy

, 2006
Zhaoxia Wang
openalex  

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Nature Genetics, 2001
Hagit Hochner, Tsviya Olender, Mark Barash   +2 more
exaly  

Frequency, mutual exclusivity and clinical associations of myositis autoantibodies in a combined European cohort of idiopathic inflammatory myopathy patients

Journal of Autoimmunity, 2019
Gavin Shaddick, Hector Chinoy, Levente Bodoki   +2 more
exaly  

A novel autoantibody recognizing 200‐kd and 100‐kd proteins is associated with an immune‐mediated necrotizing myopathy

Arthritis and Rheumatism, 2010
Lisa Christopher-Stine, Tae Chung
exaly  

Immune-Mediated Necrotizing Myopathy

Current Rheumatology Reports, 2018
Iago Pinal-Fernandez
exaly  

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

Science Translational Medicine, 2014
Martin K Childers, Romain Joubert, Nathalie Daniele   +2 more
exaly  

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Nature Genetics, 2005
Jan Senderek, Nicole I Wolf, Kathryn N North   +2 more
exaly  

Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Nature Communications, 2017
Hichem Tasfaout, Suzie Buono, Nadia Messaddeq   +2 more
exaly