Variable myopathic presentation in a single family with novel skeletal RYR1 mutation. - Wikidata - awgldk - TriplyDB

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

http://www.wikidata.org/entity/Q37042618

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Review of RyR1 pathway and associated pathomechanisms Epigenetic changes as a common trigger of muscle weakness in congenital myopathies.A Rare Case of Severe Congenital RYR1-Associated Myopathy

P2860

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P2860

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

http://www.wikidata.org/entity/Q37042618

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

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scientific article published on 24 July 2013

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

@en

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

@nl

type

label

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

@en

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

@nl

prefLabel

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

@en

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

@nl

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JOURNAL.PONE.0069296

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Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

@en

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Michal Becker Cohen

http://www.w3.org/2001/XMLSchema#string

Muhannad Daana

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Rachel Straussberg

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Ruben Attali

http://www.w3.org/2001/XMLSchema#string

Sharon Aharoni

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Stella Mitrani-Rosenbaum

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Susan Treves

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Talya Dor

http://www.w3.org/2001/XMLSchema#string

Yakov Fellig

http://www.w3.org/2001/XMLSchema#string

Yoram Nevo

http://www.w3.org/2001/XMLSchema#string

P2860

Central core disease: clinical, pathological, and genetic features

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes

The point mutation Arg615-->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia

What's new in congenital myopathies?

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.

ALOHOMORA: a tool for linkage analysis using 10K SNP array data.

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

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

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e69296

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scholarly article

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10.1371/JOURNAL.PONE.0069296

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