(Q53319752)

English

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.

scientific article published in February 2002

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scholarly article

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http://europepmc.org/abstract/MED/11738362

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands. (English)

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Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/11738362

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Emery-Dreifuss muscular dystrophy

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http://europepmc.org/abstract/MED/11738362

Stefano Squarzoni

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http://europepmc.org/abstract/MED/11738362

Luciano Merlini

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Luciano Merlini

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Francesco Muntoni

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Francesco Muntoni

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author name string

Jaqueline Capeau

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http://europepmc.org/abstract/MED/11738362

Marianne De Visser

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http://europepmc.org/abstract/MED/11738362

Denis Duboc

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http://europepmc.org/abstract/MED/11738362

Glenn E Morris

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Dominique Recan

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Caroline Sewry

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Colin Stewart

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Beril Talim

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Anneke van der Kooi

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Howard Worman

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Ketty Schwartz

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publication date

1 February 2002

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Neuromuscular Disorders

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187-194

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Emery-Dreifuss muscular dystrophy - a 40 year retrospective

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https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

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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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7 January 2021

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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%2FS0960-8966%2801%2900243-7

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

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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%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS0960-8966%2801%2900243-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

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Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

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Prenylated prelamin A interacts with Narf, a novel nuclear protein

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

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The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900243-7

7 January 2021

based on heuristic

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Identifiers

10.1016/S0960-8966(01)00243-7

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/11738362

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/11738362

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