(Q35569445)

English

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma

scientific article published on 26 July 2011

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scholarly article

1 reference

Europe PubMed Central

8 August 2017

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma (English)

1 reference

Europe PubMed Central

8 August 2017

1 reference

based on heuristic

inferred from title

7

object named as

Georg Ertl

1 reference

Europe PubMed Central

8 August 2017

8

object named as

Oliver Ritter

1 reference

Europe PubMed Central

8 August 2017

author name string

Tatjana Williams

1

1 reference

Europe PubMed Central

8 August 2017

Wolfram Machann

2

1 reference

Europe PubMed Central

8 August 2017

Leif Kühler

3

1 reference

Europe PubMed Central

8 August 2017

Henning Hamm

4

1 reference

Europe PubMed Central

8 August 2017

Josef Müller-Höcker

5

1 reference

Europe PubMed Central

8 August 2017

Michael Zimmer

6

1 reference

Europe PubMed Central

8 August 2017

Meinrad Beer

9

1 reference

Europe PubMed Central

8 August 2017

Jost Schönberger

10

1 reference

Europe PubMed Central

8 August 2017

publication date

26 July 2011

1 reference

Europe PubMed Central

8 August 2017

Clinical Research in Cardiology

1 reference

Europe PubMed Central

8 August 2017

100

1 reference

Europe PubMed Central

8 August 2017

1087-1093

1 reference

Europe PubMed Central

8 August 2017

12

1 reference

Europe PubMed Central

8 August 2017

https://scigraph.springernature.com/pub.10.1007/s00392-011-0345-9

0 references

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Many roads lead to a broken heart: the genetics of dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Cardiac abnormalities in familial palmoplantar keratosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

12 July 2018

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

26 September 2018

Left Ventricular Non-Compaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3222824

24 October 2018

Clinical features and outcomes of childhood dilated cardiomyopathy: results from a national population-based study

1 reference

https://pubmed.ncbi.nlm.nih.gov/21789513

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00392-011-0345-9

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

1 reference

Europe PubMed Central

8 August 2017

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0 references

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