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American Journal of Human Genetics|April 7, 2009
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Jan Senderek, Sean M Garvey, Michael Krieger, et al.
Acta Neuropathologica|December 24, 2025
Vasculitic fasciitis characterizes a distinct subset of vasculitic myopathy with interferon-gamma signatureNikolas Ruffer, Iago Pinal-Fernandez, Corinna Preusse, et al.
American Journal of Human Genetics|June 15, 2007
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Claudia Stendel, Andreas Roos, Tine Deconinck, et al.
Cell Reports. Medicine|March 18, 2026
Weight loss with GLP-1 medicines does not result in a disproportionate loss of muscle mass or function in obese mice and humansHenning Tim Langer, Natalie K Gilmore, Christopher M T Hayden, et al.
European Journal of Human Genetics : EJHG|January 4, 2020
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophyPietro Spitali, Irina Zaharieva, Stefan Bohringer, et al.
Acta Neuropathologica|June 18, 2024
Inter-alpha-trypsin inhibitor heavy chain H3 is a potential biomarker for disease activity in myasthenia gravisChristina B Schroeter, Christopher Nelke, Frauke Stascheit, et al.
Journal of Neuromuscular Diseases|January 16, 2026
Large-scale proteomics profiling of peripheral blood of DM1 patients identifies biomarkers for disease severity and functional capacityDaniël van As, Tine Claeys, Renee Salz, et al.
Acta Neuropathologica Communications|December 9, 2023
Post-COVID exercise intolerance is associated with capillary alterations and immune dysregulations in skeletal musclesTom Aschman, Emanuel Wyler, Oliver Baum, et al.
Brain : a Journal of Neurology|April 1, 2021
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDHDenisa Hathazi, Dan Cox, Adele D'Amico, et al.
Journal of Neurology|March 9, 2023
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1Chi D L Nguyen, Aura Cecilia Jimenez-Moreno, Monika Merker, et al.
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