Showing results (11-20 of 17) with videos related to
Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Proceedings of the National Academy of Sciences of the United States of America|September 4, 2008
Mechanoenzymatics of titin kinaseElias M Puchner, Alexander Alexandrovich, Ay Lin Kho, et al.Science Advances|January 22, 2025
The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytesYvonne Eibach, Silke Kreher, Mareike S Poetsch, et al.Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.Pageof 2