A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres. - Wikidata - awgldk - TriplyDB

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

http://www.wikidata.org/entity/Q37004813

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Malignant hyperthermia Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

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A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

http://www.wikidata.org/entity/Q37004813

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on February 2007

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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

A truncation in the RYR1 gene ...... ons in skeletal muscle fibres.

@en

A truncation in the RYR1 gene ...... ons in skeletal muscle fibres.

@nl

type

label

A truncation in the RYR1 gene ...... ons in skeletal muscle fibres.

@en

A truncation in the RYR1 gene ...... ons in skeletal muscle fibres.

@nl

prefLabel

A truncation in the RYR1 gene ...... ons in skeletal muscle fibres.

@en

A truncation in the RYR1 gene ...... ons in skeletal muscle fibres.

@nl

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JMG.2006.043794

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Journal of Medical Genetics

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A truncation in the RYR1 gene ...... ions in skeletal muscle fibres

@en

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Alfredo Orrico

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Alla Lyfenko

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Daniela Franci

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Francesco Petrioli

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Lucia Galli

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Patrick De Smet

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Robert Dirksen

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Stefania Lorenzini

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Vincenzo Tegazzin

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P2860

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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

Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.

A clinical grading scale to predict malignant hyperthermia susceptibility.

Ryanodine receptor regulation by intramolecular interaction between cytoplasmic and transmembrane domains.

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

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor

Calmodulin binding to the 3614-3643 region of RyR1 is not essential for excitation-contraction coupling in skeletal myotubes

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e67

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scholarly article

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10.1136/JMG.2006.043794

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Corrado Angelini

Vincenzo Sorrentino

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2007-02-01T00:00:00Z

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