Associated Papers
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.
Ying EZ et al.
Human Molecular Genetics, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrum.
Regev M et al.
Gene, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR et al.
Journal of Neuromuscular Diseases, 2023
The effects of dantrolene in the presence or absence of ryanodine receptor type 1 variants in individuals predisposed to malignant hyperthermia.
Noda Y et al.
Anaesthesia and Intensive Care, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Bachmann C et al.
Brain Communications, 2022
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
van den Bersselaar LR et al.
Brain Communications, 2022
BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis.
Gonzalez A et al.
European Journal of Anaesthesiology, 2021
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K et al.
Scientific Reports, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA et al.
Orphanet Journal of Rare Diseases, 2020
Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.
Yamazawa T et al.
The Journal of General Physiology, 2020
Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function.
Graham B et al.
Frontiers in Genetics, 2020
An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations.
Ibarra Moreno CA et al.
Anesthesiology, 2019
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Sadhasivam S et al.
Pharmacogenomics, 2019
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ et al.
Journal of Neurology, 2019
Abnormal calcium signalling and the caffeine-halothane contracture test.
Figueroa L et al.
British Journal of Anaesthesia, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.
Li W et al.
Forensic Science, Medicine, and Pathology, 2017
Aging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations.
Nicoll Baines K et al.
G3 (bethesda, Md.), 2017
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
Levano S et al.
Neuromuscular Disorders : Nmd, 2017
RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.
Voermans NC et al.
Revue Neurologique, 2016
[The investigation of malignant hyperthermia susceptibility].
Glahn KP
Ugeskrift for Laeger, 2016
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility.
Hopkins PM et al.
British Journal of Anaesthesia, 2015
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M et al.
European Journal of Neurology, 2015
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.
Fiszer D et al.
Anesthesiology, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW et al.
Anesthesia and Analgesia, 2013
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.
Carsana A
Thescientificworldjournal, 2013