Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. - Wikidata - awgldk - TriplyDB

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

http://www.wikidata.org/entity/Q37497206

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PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics Toxic myopathies PharmGKB summary: very important pharmacogene information for RYR1 Sharing and Reuse of Sensitive Data and Samples: Supporting Researchers in Identifying Ethical and Legal Requirements The effect of succinylcholine on malignant hyperthermia events in susceptible swine.Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Counter-flow suggests transport of dantrolene and 5-OH dantrolene by the organic anion transporters 2 (OAT2) and 3 (OAT3).Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals.Treatment of Malignant Hyperthermia without Dantrolene in a 14-year-old Boy.Do we foresee new emerging drugs to treat malignant hyperthermia?Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Germline genetic variants with implications for disease risk and therapeutic outcomes.[Stocks of dantrolene in anesthesia and intensive care units in Germany : Nationwide online survey with 1673 participants].

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Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

http://www.wikidata.org/entity/Q37497206

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 16 January 2014

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Functional and genetic charact ...... crises: a multi-centre study.

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Functional and genetic charact ...... crises: a multi-centre study.

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type

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Functional and genetic charact ...... crises: a multi-centre study.

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Functional and genetic charact ...... crises: a multi-centre study.

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Functional and genetic charact ...... crises: a multi-centre study.

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Functional and genetic charact ...... crises: a multi-centre study.

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Orphanet Journal of Rare Diseases

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Functional and genetic charact ...... crises: a multi-centre study.

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Elvira Gravino

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Frank Lehmann-Horn

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Frank Schuster

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Henrik Rüffert

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James Ja Heffron

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Karin Jurkat-Rott

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Marc Snoeck

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Stephan Johannsen

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Thierry Girard

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Vincenzo Tegazzin

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P2860

Malignant hyperthermia

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.

Identical de novo mutation in the type 1 ryanodine receptor gene associated with fatal, stress-induced malignant hyperthermia in two unrelated families.

A clinical grading scale to predict malignant hyperthermia susceptibility.

Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.

Structural interaction between RYRs and DHPRs in calcium release units of cardiac and skeletal muscle cells.

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

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10.1186/1750-1172-9-8

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Vincenzo Sorrentino

Sebastian Heiderich

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2014-01-16T00:00:00Z

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