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
40869992 (PubMed )
Supplement: genes-16-00944-s001.zip › genes-3772861-supplementary.xlsx › S1_RYR1_and_CACNA1S_variants
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants
One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.
Deng Q et al.
Gene, 2023
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
33767344 (PubMed )
Supplement: NIHMS1689967-supplement-Large_Excel_File.xls › Table_S2
Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia.
Yeh HM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2021
Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.
Yamazawa T et al.
The Journal of General Physiology, 2020
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
Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan.
Chen PL et al.
Anesthesia and Analgesia, 2009
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R et al.
Human Mutation, 2006
Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C).
Yeh HM et al.
Anesthesia and Analgesia, 2005
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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