(Q28188458)

10

object named as

Michel Komajda

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author name string

Jean-Christophe Charniot

1

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Cécile Pascal

2

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Pascale Sébillon

4

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Jeffrey Salama

5

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Laëtitia Duboscq-Bidot

6

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Mireille Peuchmaurd

7

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Michel Desnos

8

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Jean-Yves Artigou

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

9

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language of work or name

English

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publication date

May 2003

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published in

Human Mutation

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volume

21

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issue

5

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page(s)

473-81

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

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/10.1002%2FHUMU.10170

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/10.1002%2FHUMU.10170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

The nuclear envelope in muscular dystrophy and cardiovascular diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

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/10.1002%2FHUMU.10170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

Frequency and phenotypes of familial dilated cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

Familial dilated cardiomyopathy: clinical features in French families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

Familial dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

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/10.1002%2FHUMU.10170

7 January 2021

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

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/10.1002%2FHUMU.10170

7 January 2021

Nuclear lamins: their structure, assembly, and interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021

A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10170

7 January 2021