Associated Papers
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
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
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A et al.
Neurology. Genetics, 2019
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
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
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
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
Sei Y et al.
Anesthesiology, 2004
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
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.
Sambuughin N et al.
Neuromuscular Disorders : Nmd, 2001
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
Sambuughin N et al.
Anesthesiology, 2001
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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