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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.American Journal of Physiology. Cell Physiology|September 16, 2011
Remodeling of calcium handling in skeletal muscle through PGC-1α: impact on force, fatigability, and fiber typeSerge Summermatter, Raphael Thurnheer, Gesa Santos, et al.Human Mutation|August 29, 2012
JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptorToshimichi Yasuda, Osvaldo Delbono, Zhong-Min Wang, et al.Cell Calcium|January 6, 2007
Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulumMiao Zhang, Tetsuo Yamazaki, Masayuki Yazawa, et al.Cell Calcium|November 26, 2008
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activityFarshid Ghassemi, Mirko Vukcevic, Le Xu, et al.The Journal of Biological Chemistry|August 10, 2004
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core diseaseSylvie Ducreux, Francesco Zorzato, Clemens Müller, et al.Nature Reviews. Neurology|February 3, 2018
Congenital myopathies: disorders of excitation-contraction coupling and muscle contractionHeinz Jungbluth, Susan Treves, Francesco Zorzato, et al.Journal of Cell Science|April 28, 2006
The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1Ayuk A Anderson, Xavier Altafaj, Zhenlin Zheng, et al.The Journal of Biological Chemistry|June 6, 2020
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in miceMoran Elbaz, Alexis Ruiz, Sven Nicolay, et al.Pageof 10