(Q33152773)

22 July 2017

Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations (English)

1 reference

arrhythmogenic right ventricular cardiomyopathy

22 July 2017

0 references

10

Gaetano Thiene

1 reference

22 July 2017

1

Barbara Bauce

1 reference

22 July 2017

Cristina Basso

2

1 reference

22 July 2017

Alessandra Rampazzo

3

1 reference

22 July 2017

Giorgia Beffagna

4

1 reference

22 July 2017

Luciano Daliento

5

1 reference

22 July 2017

Gianfranco Frigo

6

1 reference

22 July 2017

Sandro Malacrida

7

1 reference

22 July 2017

Luca Settimo

8

1 reference

22 July 2017

GianAntonio Danieli

9

1 reference

22 July 2017

Andrea Nava

11

1 reference

22 July 2017

7 June 2005

1 reference

22 July 2017

European Heart Journal

1 reference

22 July 2017

26

1 reference

22 July 2017

1666-1675

1 reference

22 July 2017

16

1 reference

Familial occurrence of right ventricular dysplasia: a study involving nine families

22 July 2017

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Right ventricular dysplasia: a report of 24 adult cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Right ventricular cardiomyopathy and sudden death in young people

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Plakins: a family of versatile cytolinker proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

The PSIPRED protein structure prediction server

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FEURHEARTJ%2FEHI341

21 January 2018

Identifiers

DOI

10.1093/EURHEARTJ/EHI341

1 reference

22 July 2017

1 reference