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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.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.Iscience|March 5, 2021
Rapid subcellular calcium responses and dynamics by calcium sensor G-CatchERFlorence N Reddish, Cassandra L Miller, Xiaonan Deng, et al.Brain Communications|October 5, 2022
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathiesChristoph Bachmann, Martina Franchini, Luuk R Van den Bersselaar, et al.Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.Acta Neuropathologica|December 25, 2016
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathyVanessa Schartner, Norma B Romero, Sandra Donkervoort, et al.Pageof 7