Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 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
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 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
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
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
A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
Ibarra Moreno CA et al.
British Journal of Anaesthesia, 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
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
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2016
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Postmortem molecular screening for mutations in ryanodine receptor type 1 (RYR1) gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome.
Sato T et al.
Forensic Science International, 2010
150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2008
A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser.
Girard T et al.
Anesthesia and Analgesia, 2008
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Sambuughin N et al.
Anesthesiology, 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
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
Rueffert H et al.
American Journal of Medical Genetics. Part A, 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
Genetic predisposition to neuroleptic malignant syndrome : implications for antipsychotic therapy.
Kawanishi C
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 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
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 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
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.
Davis M et al.
British Journal of Anaesthesia, 2002
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
Monnier N et al.
Human Molecular Genetics, 2001
Genotype-phenotype comparison of the Swiss malignant hyperthermia population.
Girard T et al.
Human Mutation, 2001
Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.
Stewart SL et al.
Clinical Genetics, 2001
A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
Brown RL et al.
Human Molecular Genetics, 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
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers.
Curran JL et al.
British Journal of Anaesthesia, 1999
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.
Barone V et al.
Journal of Medical 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
Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia.
Stewart SL et al.
Clinical Genetics, 1998
Malignant hyperthermia and central core disease: disorders of Ca2+ release channels.
Loke J et al.
The American Journal of Medicine, 1998
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
Manning BM et al.
Human Mutation, 1998
Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation.
Fagerlund TH et al.
Clinical Genetics, 1997
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