Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
about
Structural determination of the phosphorylation domain of the ryanodine receptorDivergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal RegionMalignant hyperthermia: a pharmacogenetic disorder.Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathyFunctional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.Pharmacogenetics and pathophysiology of CACNA1S mutations in malignant hyperthermia.Safety considerations of anesthetic drugs in children.Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Malignant Hyperthermia and Idiopathic HyperCKemia.Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermiaFunctional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant HyperthermiaExcitation-Contraction Coupling Alterations in Myopathies.Use of the caffeine-halothane contracture test for the diagnosis of malignant hyperthermia in Brazil.Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.Myopathic changes in malignant hyperthermia-susceptible patients.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.Long term oral Dantrolene Improved Muscular Symptoms in a Malignant Hyperthermia Susceptible Individual.Minor increase of endtidal CO2 during sevoflurane-induced malignant hyperthermia.[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesNovel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia familiesIdentification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia
P2860
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P2860
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Correlations between genotype ...... t hyperthermia susceptibility.
@ast
Correlations between genotype ...... t hyperthermia susceptibility.
@en
type
label
Correlations between genotype ...... t hyperthermia susceptibility.
@ast
Correlations between genotype ...... t hyperthermia susceptibility.
@en
prefLabel
Correlations between genotype ...... t hyperthermia susceptibility.
@ast
Correlations between genotype ...... t hyperthermia susceptibility.
@en
P2093
P921
P356
P1433
P1476
Correlations between genotype ...... t hyperthermia susceptibility.
@en
P2093
David Bendahan
David H Maclennan
Geneviève Kozak-Ribbens
Jean-François Payen
Joël Lunardi
Julian Loke
Natasha Kraev
Nicole Monnier
Norma Roméro
P2860
P304
P356
10.1002/HUMU.20231
P577
2005-11-01T00:00:00Z