Associated Papers
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Ginsberg M et al.
Journal of Clinical Medicine, 2026
Comprehensive pharmacogenomics profiling of the Serbian population.
Jelovac M et al.
Frontiers in Pharmacology, 2025
40166472 (PubMed )
Supplement: DataSheet1.xlsx › 5._PharmCAT_diffrences
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
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R et al.
European Journal of Human Genetics : Ejhg, 2021
34462577 (PubMed )
Supplement: 41431_2021_954_MOESM1_ESM.xlsx › RYR1_MAF_0.1_
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
33037202 (PubMed )
Supplement: 41467_2020_18865_MOESM3_ESM.xlsx › Supplementary_Table_1
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
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
25517095 (PubMed )
Supplement: NIHMS61019-supplement-Supplementary_Table_1.pdf
Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum.
Maclennan DH et al.
Biochimica Et Biophysica Acta, 2011
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
Tammaro A et al.
Clinical Chemistry, 2003
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