Showing results (61-70 of 91) with videos related to

Sort By:
Pageof 10
Human Molecular Genetics|February 5, 2003
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptorFrancesco Zorzato, Naohiro Yamaguchi, Le Xu, et al.
Neuromuscular Disorders : NMD|March 23, 2007
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) geneHeinz Jungbluth, Haiyan Zhou, Caroline A Sewry, et al.
Human Molecular Genetics|August 31, 2006
Characterization of recessive RYR1 mutations in core myopathiesHaiyan Zhou, Naohiro Yamaguchi, Le Xu, et al.
The Biochemical Journal|October 15, 2011
SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenaseSusan Treves, Raphael Thurnheer, Barbara Mosca, et al.
JCI Insight|March 22, 2024
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndromeRoberto Silva-Rojas, Laura Pérez-Guàrdia, Alix Simon, et al.
Plos One|July 30, 2013
Variable myopathic presentation in a single family with novel skeletal RYR1 mutationRuben Attali, Sharon Aharoni, Susan Treves, et al.
The Journal of General Physiology|March 6, 2024
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in miceSofia Benucci, Alexis Ruiz, Martina Franchini, et al.
Experimental Gerontology|February 3, 2012
Endogenously determined restriction of food intake overcomes excitation-contraction uncoupling in JP45KO mice with agingOsvaldo Delbono, Maria Laura Messi, Zhong-Min Wang, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 14, 2007
Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45Osvaldo Delbono, Jinyu Xia, Susan Treves, et al.
The Journal of Cell Biology|August 11, 2004
Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletionSusan Treves, Clara Franzini-Armstrong, Luca Moccagatta, et al.
Pageof 10