Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features (Q24294249)

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7 January 2020

title

Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features (English)

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7 January 2020

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GOA release 2020-03-11

regulation of ventricular cardiac muscle cell action potential

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GOA release 2020-03-11

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7

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10

Arthur A M Wilde

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5

Ans C P Wiesfeld

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7 January 2020

author name string

Zahurul A Bhuiyan

1

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7 January 2020

Maarten P van den Berg

2

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7 January 2020

J Peter van Tintelen

3

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7 January 2020

Margreet T E Bink-Boelkens

4

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7 January 2020

Marielle Alders

6

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7 January 2020

Irene van Langen

8

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7 January 2020

Marcel M A M Mannens

9

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7 January 2020

language of work or name

English

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publication date

17 September 2007

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7 January 2020

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7 January 2020

volume

116

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issue

14

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7 January 2020

page(s)

1569-1576

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Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA

7 January 2020

cites work

1 reference

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7 January 2021

The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations

1 reference

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7 January 2021

FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death

1 reference

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7 January 2021

Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts

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7 January 2021

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

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7 January 2021

Stabilization of cardiac ryanodine receptor prevents intracellular calcium leak and arrhythmias

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7 January 2021

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

1 reference

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7 January 2021

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

1 reference

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7 January 2021

Protection from cardiac arrhythmia through ryanodine receptor-stabilizing protein calstabin2.

1 reference

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7 January 2021

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

1 reference

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7 January 2021

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

1 reference

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7 January 2021

Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia

1 reference

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7 January 2021

Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes

1 reference

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7 January 2021

Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death

1 reference

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7 January 2021

Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphatics

1 reference

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7 January 2021

Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases

1 reference

https://api.crossref.org/works/10.1161%2FCIRCULATIONAHA.107.711606

7 January 2021

10.1161/CIRCULATIONAHA.107.711606

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

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7 January 2020

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Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017