Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease (Q43919815)

28 November 2017

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease (English)

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28 November 2017

atrioventricular block

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inferred from title

dilated cardiomyopathy

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1

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28 November 2017

11

Luigi Tavazzi

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28 November 2017

Andrea Pilotto

2

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28 November 2017

Alessandra Repetto

3

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28 November 2017

Maurizia Grasso

4

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28 November 2017

Andrea Negri

5

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28 November 2017

Marta Diegoli

6

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28 November 2017

Carlo Campana

7

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28 November 2017

Laura Scelsi

8

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28 November 2017

Elisa Baldini

9

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28 November 2017

Antonello Gavazzi

10

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28 November 2017

language of work or name

English

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publication date

1 March 2002

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Journal of the American College of Cardiology

28 November 2017

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28 November 2017

39

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28 November 2017

981-990

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28 November 2017

6

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The nuclear lamins. A multigene family of proteins in evolution and differentiation

28 November 2017

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Nuclear lamins: their structure, assembly, and interactions

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy.

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Mutations in the LMNA gene encoding lamin A/C

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Restrictive Cardiomyopathy, Atrioventricular Block and Mild to Subclinical Myopathy in Patients With Desmin-Immunoreactive Material Deposits

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Measurement of protein using bicinchoninic acid

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2901724-2

7 January 2021

10.1016/S0735-1097(02)01724-2

Identifiers

DOI

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28 November 2017

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