Associated Papers
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 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
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
Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1-related rhabdomyolysis or myalgia.
Lyu Z et al.
Muscle & Nerve, 2024
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS et al.
Stem Cell Research, 2024
Remimazolam-based total intravenous anesthesia in a patient with a confirmed diagnosis of malignant hyperthermia: a case report.
Kondo H et al.
Ja Clinical Reports, 2024
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
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.
Sonne A et al.
Acta Physiologica (oxford, England), 2023
Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia-Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability.
Ibarra Moreno CA et al.
Anesthesia and Analgesia, 2023
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH).
Riazi S et al.
Neuromuscular Disorders : Nmd, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 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
The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol.
van den Bersselaar LR et al.
Medicine, 2021
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
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Wang J 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
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
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
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
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting N et al.
Acta Neurologica Scandinavica, 2018
Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.
Kraeva N et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2017
"Human Stress Syndrome" and the Expanding Spectrum of RYR1-Related Myopathies.
Snoeck M et al.
Cell Biochemistry and Biophysics, 2016
Malignant hyperthermia, a Scandinavian update.
Broman M et al.
Acta Anaesthesiologica Scandinavica, 2015
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.
Gillies RL et al.
Anaesthesia and Intensive Care, 2015
RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?
Forrest KM et al.
Neuromuscular Disorders : Nmd, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.
Schiemann AH et al.
Anesthesia and Analgesia, 2014
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 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
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
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
Kraeva N et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2011
A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia.
Ginz HF et al.
Pharmacogenetics and Genomics, 2009