Associated Papers
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
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
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.
Kondo T et al.
Journal of Anesthesia, 2018
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2016
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Dowling JJ et al.
Neuromuscular Disorders : Nmd, 2011
A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia.
Ginz HF et al.
Pharmacogenetics and Genomics, 2009
Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.
Migita T et al.
Journal of Anesthesia, 2009
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia.
McKinney LC et al.
Anesthesiology, 2006
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.
Treves S et al.
Neuromuscular Disorders : Nmd, 2005
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
Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release.
Du GG et al.
The Biochemical Journal, 2004
Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.
Wehner M et al.
Neuromuscular Disorders : Nmd, 2004
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
Rueffert H et al.
American Journal of Medical Genetics. Part A, 2004
The Ile2453Thr mutation in the ryanodine receptor gene 1 is associated with facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes.
Wehner M et al.
Cell Calcium, 2003
[Current aspects of the diagnosis of malignant hyperthermia].
Rüffert H et al.
Der Anaesthesist, 2002