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Human Mutation|April 5, 2013
RyR1 deficiency in congenital myopathies disrupts excitation-contraction couplingHaiyan Zhou, Ori Rokach, Lucy Feng, et al.
Human Molecular Genetics|November 20, 2010
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core diseaseSusan Treves, Mirko Vukcevic, Pierre-Yves Jeannet, et al.
The Biochemical Journal|November 29, 2014
Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complexRubén J Lopez, Barbara Mosca, Susan Treves, et al.
Human Molecular Genetics|May 3, 2019
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strengthMoran Elbaz, Alexis Ruiz, Christoph Bachmann, et al.
Nature Communications|February 28, 2013
Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout miceBarbara Mosca, Osvaldo Delbono, Maria Laura Messi, et al.
Neuromuscular Disorders : NMD|June 23, 2022
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)Sheila Riazi, Luuk R van den Bersselaar, Gunilla Islander, et al.
Neuromuscular Disorders : NMD|February 28, 2025
Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire studyArti M Mistry, Georgia Saldanha, Luuk R van den Bersselaar, et al.
Human Molecular Genetics|May 29, 2015
Epigenetic changes as a common trigger of muscle weakness in congenital myopathiesOri Rokach, Marijana Sekulic-Jablanovic, Nicol Voermans, et al.
Science Signaling|July 7, 2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalitiesRubén J Lopez, Susan Byrne, Mirko Vukcevic, et al.
Brain Communications|February 8, 2023
Neuromuscular symptoms in patients with <i>RYR1</i>-related malignant hyperthermia and rhabdomyolysisLuuk R van den Bersselaar, Heinz Jungbluth, Nick Kruijt, et al.
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