(Q24299388)

Journal of the American College of Cardiology

GOA release 2020-03-11

2

Petros Syrris

Petros

Syrris

1 reference

30 October 2023

William J McKenna

3

William J

McKenna

1 reference

30 October 2023

Srijita Sen-Chowdhry

1

Srijita

Sen-Chowdhry

1 reference

30 October 2023

language of work or name

English

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publication date

6 November 2007

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published in

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volume

50

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page(s)

1813-21

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issue

19

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cites work

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Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management

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

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Arrhythmogenic right ventricular dysplasia type 1 and mutations in transforming growth factor beta3 gene regulatory regions: a breakthrough?

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

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The impact of implantable cardioverter-defibrillator therapy on survival in autosomal-dominant arrhythmogenic right ventricular cardiomyopathy (ARVD5)

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Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy

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Cardiovascular Magnetic Resonance in Arrhythmogenic Right Ventricular Cardiomyopathy Revisited

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

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

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Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria

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

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Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study.

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

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Founder mutations among the Dutch

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Cardiac sarcoidosis masquerading as right ventricular dysplasia

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Right ventricular cardiomyopathy and sudden death in young people

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Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic 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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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

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

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

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Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies

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

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

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

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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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Left ventricular involvement in arrhythmogenic right ventricular cardiomyopathy - a scintigraphic and echocardiographic study.

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Genetics of right ventricular cardiomyopathy

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

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Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.

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Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy

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Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

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Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

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

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

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

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies

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Age- and Training-Dependent Development of Arrhythmogenic Right Ventricular Cardiomyopathy in Heterozygous Plakoglobin-Deficient Mice

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

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Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy

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