(Q54693639)

2 June 2018

title

LMNA mutations in cardiac transplant recipients. (English)

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7

Axel Haverich

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Klaus Pethig

1

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2 June 2018

Janine Genschel

2

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Tina Peters

3

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Mathias Wilhelmi

4

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Peer Flemming

5

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Herbert Lochs

6

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Hartmut H-J Schmidt

8

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language of work or name

English

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publication date

10 November 2004

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2 June 2018

published in

Cardiology

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volume

103

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issue

2

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2 June 2018

page(s)

57-62

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2 June 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

Frequency and phenotypes of familial dilated cardiomyopathy.

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

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Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.

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Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

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Desmin mutation responsible for idiopathic dilated cardiomyopathy

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

21 January 2018

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Mutations in the LMNA gene encoding lamin A/C

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

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1 reference

Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

21 January 2018

1 reference

Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

1 reference

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

1 reference

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

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LMNA mutations in atypical Werner's syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

21 January 2018

1 reference

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

21 January 2018

1 reference

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

21 January 2018

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Disruption of nuclear lamin organization alters the distribution of replication factors and inhibits DNA synthesis

21 January 2018

1 reference

A structural scaffolding of intermediate filaments in health and disease

21 January 2018

1 reference

Implications of intermediate filament protein phosphorylation

21 January 2018

1 reference

Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects.

21 January 2018

1 reference

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000082048

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2 June 2018

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2 June 2018