Associated Papers
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 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
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating.
Thekkedam CG et al.
International Journal of Molecular Sciences, 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
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
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
Malignant hyperthermia in a 16-day-old infant with congenital diaphragmatic hernia: a case report.
Tsutsumi YM et al.
Journal of Anesthesia, 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
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Malignant hyperthermia, a Scandinavian update.
Broman M et al.
Acta Anaesthesiologica Scandinavica, 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
Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.
Broman M et al.
British Journal of Anaesthesia, 2009
Ryanodine receptor as a new therapeutic target of heart failure and lethal arrhythmia.
Yano M
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
Heytens L
Acta Anaesthesiologica Belgica, 2007
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R et al.
Human Mutation, 2006
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
Monnier N et al.
Human Mutation, 2005
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.
Shepherd S et al.
Journal of Medical Genetics, 2004
Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?
Robinson RL et al.
European Journal of Human Genetics : Ejhg, 2003
Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
Muniz VP et al.
Journal of Molecular Neuroscience : Mn, 2003
Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes.
Sei Y et al.
Anesthesiology, 2002
Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cells.
Girard T et al.
British Journal of Anaesthesia, 2002
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
Robinson RL et al.
Human Mutation, 2002
Genotype-phenotype comparison of the Swiss malignant hyperthermia population.
Girard T et al.
Human Mutation, 2001
Malignant hyperthermia: an inherited disorder of skeletal muscle Ca+ regulation.
Louis CF et al.
Bioscience Reports, 2001
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.
Fortunato G et al.
European Journal of Human Genetics : Ejhg, 2000
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
Brandt A et al.
Human Molecular Genetics, 1999
Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.
Tong J et al.
The Journal of Biological Chemistry, 1999
Functional interactions of cytoplasmic domains of the skeletal muscle Ca2+ release channel.
Wu Y et al.
Trends in Cardiovascular Medicine, 1998
Malignant hyperthermia and central core disease: disorders of Ca2+ release channels.
Loke J et al.
The American Journal of Medicine, 1998
Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.
Tong J et al.
The Journal of Biological Chemistry, 1997
Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.
Quane KA et al.
British Journal of Anaesthesia, 1997
A case of discordance between genotype and phenotype in a malignant hyperthermia family.
Fortunato G et al.
European Journal of Human Genetics : Ejhg, 0
Malignant hyperthermia associated with ryanodine receptor 1 (C7360G) mutation in Quarter Horses.
Aleman M et al.
Journal of Veterinary Internal Medicine, 0
Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.
Vladutiu GD et al.
Molecular Genetics and Metabolism, 0