RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
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Central core diseaseMalignant hyperthermiaMalignant hyperthermia: a reviewPharmGKB summary: very important pharmacogene information for RYR1Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal RegionThe role of CACNA1S in predisposition to malignant hyperthermiaWhole transcriptome analyses of six thoroughbred horses before and after exercise using RNA-Seq.Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.Themes and variations in ER/SR calcium release channels: structure and function.Ryanodine receptor calcium release channels: lessons from structure-function studies.Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant HyperthermiaAging Effects of Caenorhabditis elegans Ryanodine Receptor Variants Corresponding to Human Myopathic Mutations.Clinical utility gene card for: malignant hyperthermia.[Onset of a fulminant malignant hyperthermia crisis. Case report of a 74-year-old patient with previously subclinical central core disease].Cloning, sequencing and identification of single nucleotide polymorphisms of partial sequence on the porcine CACNA1S gene.Effects of Mg(2+) and SR luminal Ca(2+) on caffeine-induced Ca(2+) release in skeletal muscle from humans susceptible to malignant hyperthermia.Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders.Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.Male preponderance of patients testing positive for malignant hyperthermia susceptibility.
P2860
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P2860
RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
RYR1 mutations causing central ...... o contracture test phenotypes.
@ast
RYR1 mutations causing central ...... o contracture test phenotypes.
@en
RYR1 mutations causing central ...... o contracture test phenotypes.
@nl
type
label
RYR1 mutations causing central ...... o contracture test phenotypes.
@ast
RYR1 mutations causing central ...... o contracture test phenotypes.
@en
RYR1 mutations causing central ...... o contracture test phenotypes.
@nl
prefLabel
RYR1 mutations causing central ...... o contracture test phenotypes.
@ast
RYR1 mutations causing central ...... o contracture test phenotypes.
@en
RYR1 mutations causing central ...... o contracture test phenotypes.
@nl
P2093
P2860
P356
P1433
P1476
RYR1 mutations causing central ...... o contracture test phenotypes.
@en
P2093
Collin Brooks
F Richard Ellis
Marie-Anne Shaw
P Jane Halsall
Philip M Hopkins
Rachel L Robinson
Sarah L Brown
P2860
P356
10.1002/HUMU.10098
P577
2002-08-01T00:00:00Z