Showing results (21-30 of 69) with videos related to
Sort By:
Pageof 7
Neuromuscular Disorders : NMD|November 23, 2023
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individualsYuko Noda, Hirotsugu Miyoshi, Sofia Benucci, et al.Human Molecular Genetics|January 29, 2019
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibresMoran Elbaz, Alexis Ruiz, Jan Eckhardt, et al.Elife|March 2, 2023
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive <i>Ryr1</i> mutations linked to congenital myopathiesJan Eckhardt, Alexis Ruiz, Stéphane Koenig, et al.Human Mutation|February 5, 2011
Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscleNina D Ullrich, Dirk Fischer, Cornelia Kornblum, et al.Molecular and Cellular Biology|March 31, 2005
Myocyte enhancer factor 2 activates promoter sequences of the human AbetaH-J-J locus, encoding aspartyl-beta-hydroxylase, junctin, and junctateGiordana Feriotto, Alessia Finotti, Pompeo Volpe, et al.Journal of Cell Science|May 25, 2013
Gain of function in the immune system caused by a ryanodine receptor 1 mutationMirko Vukcevic, Francesco Zorzato, Simone Keck, et al.Scientific Reports|January 14, 2018
Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performanceAlexis Ruiz, Erez Dror, Christoph Handschin, et al.The Biochemical Journal|December 24, 2005
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytesSylvie Ducreux, Francesco Zorzato, Ana Ferreiro, et al.The Biochemical Journal|August 3, 2013
Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterizationOri Rokach, Nina D Ullrich, Martin Rausch, et al.Neuromuscular Disorders : NMD|August 9, 2005
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disordersSusan Treves, Ayuk A Anderson, Sylvie Ducreux, et al.Pageof 7