Associated Papers
RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.
Sabbatini D et al.
Biomolecules, 2025
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design.
Santos RC et al.
Heliyon, 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
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy.
Moon YJ et al.
Genes, 2022
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
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
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
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
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
A genetic mystery in malignant hyperthermia 'solved'?
Schiemann AH et al.
British Journal of Anaesthesia, 2018
Efficient High-Throughput Screening by Endoplasmic Reticulum Ca2+ Measurement to Identify Inhibitors of Ryanodine Receptor Ca2+-Release Channels.
Murayama T et al.
Molecular Pharmacology, 2018
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.
Jeong HN et al.
Journal of Clinical Neurology (seoul, Korea), 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
Evidence of malignant hyperthermia in patients administered triggering agents before malignant hyperthermia susceptibility identified: missed opportunities prior to diagnosis.
Chan TY et al.
Anaesthesia and Intensive Care, 2017
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
Chen W et al.
The Biochemical Journal, 2017
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
Murayama T et al.
Human Mutation, 2016
Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.
Broman M et al.
Clinical Genetics, 2015
Malignant hyperthermia, a Scandinavian update.
Broman M et al.
Acta Anaesthesiologica Scandinavica, 2015
A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.
Remiche G et al.
Neuromuscular Disorders : Nmd, 2015
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
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.
Kraeva N et al.
Neuromuscular Disorders : Nmd, 2013
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
Klein A et al.
Human Mutation, 2012
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility.
Taylor A et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2012
Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.
Broman M et al.
Anesthesia and Analgesia, 2011
[Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families].
Lee H et al.
The Korean Journal of Laboratory Medicine, 2010
Genetic variation in RYR1 and malignant hyperthermia phenotypes.
Carpenter D et al.
British Journal of Anaesthesia, 2009
Anesthetic experience for patients with malignant hyperthermia susceptibility determined by molecular genetic test: A report of 2 cases.
Lee JW et al.
Korean Journal of Anesthesiology, 2009
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.
Ghassemi F et al.
Cell Calcium, 2009
150th ENMC International Workshop: Core Myopathies, 9-11th March 2007, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2008
A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.
Jeong SK et al.
Journal of Clinical Neurology (seoul, Korea), 2008
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 mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H et al.
Brain : a Journal of Neurology, 2007
Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
Heytens L
Acta Anaesthesiologica Belgica, 2007