Associated Papers
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
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
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
A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia.
Ginz HF et al.
Pharmacogenetics and Genomics, 2009
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
Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.
Wehner M et al.
Neuromuscular Disorders : Nmd, 2004
Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala.
Wehner M et al.
Genetic Testing, 2003
[Current aspects of the diagnosis of malignant hyperthermia].
Rüffert H et al.
Der Anaesthesist, 2002
Association between joint dislocation and malignant hyperthermia.
Gomes AO et al.
Anaesthesia Reports, 0
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