Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
about
Structural determination of the phosphorylation domain of the ryanodine receptorAnesthetic- and heat-induced sudden death in calsequestrin-1-knockout miceUsing exome data to identify malignant hyperthermia susceptibility mutations.A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout miceNext-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.Antioxidants protect calsequestrin-1 knockout mice from halothane- and heat-induced sudden death.Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.Severely Atrophic Human Muscle Fibers With Nuclear Misplacement Survive Many Years of Permanent Denervation.Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.Excess comorbidities associated with malignant hyperthermia diagnosis in pediatric hospital discharge records.Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia.[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia familiesCorrelation of phenotype with genotype and protein structure in RYR1-related disorders
P2860
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P2860
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
description
2006 nî lūn-bûn
@nan
2006 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Frequency and localization of ...... s with malignant hyperthermia.
@ast
Frequency and localization of ...... s with malignant hyperthermia.
@en
Frequency and localization of ...... s with malignant hyperthermia.
@nl
type
label
Frequency and localization of ...... s with malignant hyperthermia.
@ast
Frequency and localization of ...... s with malignant hyperthermia.
@en
Frequency and localization of ...... s with malignant hyperthermia.
@nl
prefLabel
Frequency and localization of ...... s with malignant hyperthermia.
@ast
Frequency and localization of ...... s with malignant hyperthermia.
@en
Frequency and localization of ...... s with malignant hyperthermia.
@nl
P2093
P356
P1433
P1476
Frequency and localization of ...... ls with malignant hyperthermia
@en
P2093
Alfredo Orrico
Antonello Covacci
Lucia Galli
Michela Falciani
Stefania Lorenzini
Stefano Censini
Vincenzo Tegazzin
P356
10.1002/HUMU.9442
P577
2006-08-01T00:00:00Z