(Q34158032)

31 July 2017

title

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy (English)

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arrhythmogenic right ventricular cardiomyopathy

31 July 2017

main subject

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author

Jesper Hastrup Svendsen

5

object named as

J H Svendsen

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31 July 2017

A H Christensen

1

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31 July 2017

C B Andersen

2

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A Tybjaerg-Hansen

3

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31 July 2017

S Haunso

4

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31 July 2017

publication date

24 January 2011

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31 July 2017

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volume

80

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31 July 2017

issue

3

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31 July 2017

page(s)

256-264

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Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International S

31 July 2017

cites work

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A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

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Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

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Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy

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Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

21 January 2018

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A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

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Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

21 January 2018

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Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1

21 January 2018

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Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene

21 January 2018

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Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2.

21 January 2018

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Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.

21 January 2018

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Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

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LUMA interacts with emerin and influences its distribution at the inner nuclear membrane

21 January 2018

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21 January 2018

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Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

21 January 2018

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Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

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21 January 2018

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Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

21 January 2018

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Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

21 January 2018

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Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

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31 July 2017

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