(Q34354394)

1 August 2017

title

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations (English)

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arrhythmogenic right ventricular cardiomyopathy

1 August 2017

main subject

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Shubhayan Sanatani

3

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Stephen W. Scherer

7

object named as

Stephen W Scherer

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1 August 2017

Berivan Baskin

1

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1 August 2017

Jon R Skinner

2

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1 August 2017

Deborah Terespolsky

4

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1 August 2017

Andrew D Krahn

5

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1 August 2017

Peter N Ray

6

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1 August 2017

Robert M Hamilton

8

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1 August 2017

publication date

29 June 2013

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1 August 2017

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1 August 2017

volume

132

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1 August 2017

issue

11

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1 August 2017

page(s)

1245-1252

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A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy.

1 August 2017

cites work

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https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

In silico analysis of missense substitutions using sequence-alignment based methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1323-2

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort

21 January 2018

1 reference

12 December 2020

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease

1 reference

12 December 2020

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations

1 reference

12 December 2020

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

1 reference

12 December 2020

Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease)

1 reference

12 December 2020

Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia

1 reference

12 December 2020

Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise.

1 reference

12 December 2020

10.1007/S00439-013-1323-2

Identifiers

DOI

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Dimensions Publication ID

1 August 2017

1009324909

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