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Journal of Neuromuscular Diseases|April 24, 2026
TREAT-NMD advisory committee for therapeutics: Preclinical and clinical learnings from 15 years of TACTAnnemieke Aartsma-Rus, Laura Robertson, Lindsay N Alfano, et al.
Annals of Clinical and Translational Neurology|February 8, 2021
Clinical utility of anti-cytosolic 5'-nucleotidase 1A antibody in idiopathic inflammatory myopathiesChiseko Ikenaga, Andrew R Findlay, Namita A Goyal, et al.
Human Molecular Genetics|January 5, 2010
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Christina A Gurnett, David M Desruisseau, Kevin McCall, et al.
Neuromuscular Disorders : NMD|January 21, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathyJohanna Palmio, Per Harald Jonson, Michio Inoue, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 21, 2018
Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in miceGeorge G Schweitzer, Sara L Collier, Zhouji Chen, et al.
The Journal of Clinical Investigation|June 16, 2015
In vivo kinetic approach reveals slow SOD1 turnover in the CNSMatthew J Crisp, Kwasi G Mawuenyega, Bruce W Patterson, et al.
Acta Neuropathologica|December 13, 2022
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4Michio Inoue, Satoru Noguchi, Yukiko U Inoue, et al.
Human Molecular Genetics|March 15, 2023
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disordersFrances J Evesson, Gregory Dziaduch, Samantha J Bryen, et al.
Annals of Neurology|December 24, 2016
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositisAnne-Katrin Güttsches, Stefen Brady, Kathryn Krause, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 17, 2015
Altered cofactor regulation with disease-associated p97/VCP mutationsXiaoyi Zhang, Lin Gui, Xiaoyan Zhang, et al.
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