Desmin mutations and arrhythmogenic right ventricular cardiomyopathy (Q34312860)

1 August 2017

title

Desmin mutations and arrhythmogenic right ventricular cardiomyopathy (English)

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arrhythmogenic right ventricular cardiomyopathy

1 August 2017

main subject

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10

Gaetano Thiene

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1 August 2017

3

Barbara Bauce

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1 August 2017

Alessandra Lorenzon

1

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1 August 2017

Giorgia Beffagna

2

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1 August 2017

Marzia De Bortoli

4

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1 August 2017

Ilena E A Li Mura

5

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1 August 2017

Martina Calore

6

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1 August 2017

Emanuela Dazzo

7

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1 August 2017

Cristina Basso

8

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1 August 2017

Andrea Nava

9

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1 August 2017

Alessandra Rampazzo

11

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1 August 2017

language of work or name

English

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publication date

17 November 2012

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American Journal of Cardiology

1 August 2017

published in

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1 August 2017

volume

111

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1 August 2017

issue

3

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1 August 2017

page(s)

400-405

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Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Pathophysiology of arrhythmogenic cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Right ventricular cardiomyopathy and sudden death in young people

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

Comparison of clinical features of arrhythmogenic right ventricular cardiomyopathy in men versus women.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3554957

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

28 October 2018

1 reference

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Screening for hypertrophic cardiomyopathy in young athletes

28 October 2018

1 reference

12 December 2020

Desmin mutations in a St. Petersburg cohort of cardiomyopathies

1 reference

12 December 2020

Intermediate filaments as mechanical integrators of cellular space

1 reference

12 December 2020

Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy.

1 reference

12 December 2020

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

1 reference

12 December 2020

10.1016/J.AMJCARD.2012.10.017

Identifiers

DOI

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1 August 2017

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1 August 2017

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