(Q52932636)

9 May 2018

title

Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. (English)

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9 May 2018

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9 May 2018

author name string

Brenda Gerull

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9 May 2018

John Atherton

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9 May 2018

Anke Geupel

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9 May 2018

Sabine Sasse-Klaassen

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9 May 2018

Michael Frenneaux

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9 May 2018

Mark McNabb

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9 May 2018

Henk Granzier

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9 May 2018

Siegfried Labeit

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9 May 2018

Ludwig Thierfelder

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9 May 2018

publication date

6 May 2006

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9 May 2018

Journal of Molecular Medicine

published in

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9 May 2018

volume

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9 May 2018

issue

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9 May 2018

page(s)

478-483

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9 May 2018

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-006-0060-6

Genetic causes of human heart failure

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-006-0060-6

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

12 December 2020

Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

1 reference

12 December 2020

Clinical and genetic issues in familial dilated cardiomyopathy

1 reference

12 December 2020

Frequency and phenotypes of familial dilated cardiomyopathy

1 reference

12 December 2020

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

1 reference

12 December 2020

Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

1 reference

12 December 2020

The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

1 reference

12 December 2020

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop

1 reference

12 December 2020

MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination

1 reference

12 December 2020

The giant protein titin: a major player in myocardial mechanics, signaling, and disease

1 reference

12 December 2020

From A to Z and back? Multicompartment proteins in the sarcomere.

1 reference

12 December 2020

Titins: giant proteins in charge of muscle ultrastructure and elasticity

1 reference

12 December 2020

Titin mutations as the molecular basis for dilated cardiomyopathy

1 reference

12 December 2020

The kinase domain of titin controls muscle gene expression and protein turnover

1 reference

12 December 2020

10.1007/S00109-006-0060-6

Identifiers

DOI

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9 May 2018

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9 May 2018