Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference24 articles.
1. Genetics and pathogenesis of malignant hyperthermia;Jurkatt-Rott;Muscle Nerve,2000
2. The ryanodine receptor gene: a candidate gene for preposition to malignant hyperthermia;MacLennan;Nature,1990
3. Localization of malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2;McCarthy;Nature,1990
4. Ryanodine receptor mutation in malignant hyperthermia and central core disease;McCarthy;Human Mutat,2000
5. Functional defects in six RyR1 mutations associated with malignant hyperthermia and their impact on skeletal E-C coupling;Yang;J Biol Chem,2003
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1. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019;Orphanet Journal of Rare Diseases;2020-05-07
2. Assessing the pathogenicity of RYR1 variants in malignant hyperthermia;British Journal of Anaesthesia;2017-04
3. Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel;Human Mutation;2016-09-19
4. Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility;Cell Calcium;2014-09
5. Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubes;Neuromuscular Disorders;2014-03
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