Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Segarra-Casas A et al.
European Journal of Neurology, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R et al.
European Journal of Human Genetics : Ejhg, 2021
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
Kruijt N et al.
European Journal of Neurology, 2021
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ et al.
Journal of Neurology, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.
Voermans NC et al.
Revue Neurologique, 2016
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2016
"Human Stress Syndrome" and the Expanding Spectrum of RYR1-Related Myopathies.
Snoeck M et al.
Cell Biochemistry and Biophysics, 2016
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW et al.
Anesthesia and Analgesia, 2013
Increasing the number of diagnostic mutations in malignant hyperthermia.
Levano S et al.
Human Mutation, 2009