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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.
BMJ Open Sport & Exercise Medicine|December 1, 2016
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?Renata S Scalco, Marc Snoeck, Ros Quinlivan, et al.
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.
Anesthesia and Analgesia|October 4, 2011
Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysisMarcus Broman, Kai Heinecke, Gunilla Islander, 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.
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.
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.
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