Results 191 to 200 of about 1,995 (205)

International GNE Myopathy Patient Registry

Case Medical Research, 2019
openaire   +1 more source

Therapeutic development of ManNAc for GNE myopathy

Neuromuscular Disorders, 2016
N. Carrillo, M. Huizing, M. Quintana, C. Slota, M. Malicdan, H. Khatami, S. Berry, W. Gahl   +7 more
openaire   +1 more source

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  

A Comprehensive Overview on Myositis-Specific Antibodies: New and Old Biomarkers in Idiopathic Inflammatory Myopathy

Clinical Reviews in Allergy and Immunology, 2015
Minoru Satoh, Angela Ceribelli, S John Calise   +2 more
exaly  

Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy

Arthritis and Rheumatism, 2011
Tae Chung, Lisa Christopher-Stine
exaly  

GATM gene variants and statin myopathy risk

Nature, 2014
Hector Chinoy, Munir Pirmohamed
exaly  

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  

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, Jiri Vencovsky   +2 more
exaly  

Immune-Mediated Necrotizing Myopathy

Current Rheumatology Reports, 2018
Iago Pinal-Fernandez
exaly  

Genotype-phenotype correlation analysis in GNE myopathy

Neuromuscular Disorders, 2017
O. Pogoryelova, P. Cammish, H. Mansbach, H. Lochmüller   +3 more
openaire   +1 more source