Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy (Q44239698)

1 December 2017

Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy (English)

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1 December 2017

Antonio Dello Russo

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Enzo Ricci

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Enzo Ricci

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Luciano Merlini

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Luciano Merlini

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Gisèle Bonne

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Gisèle Bonne

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Michal Vytopil

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1 December 2017

Frank Hanisch

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1 December 2017

Stephan Neudecker

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1 December 2017

Stephan Zierz

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1 December 2017

Roberta Ricotti

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1 December 2017

Laurence Demay

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1 December 2017

Pascale Richard

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1 December 2017

Manfred Wehnert

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1 December 2017

Daniela Toniolo

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1 December 2017

1 December 2002

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1 December 2017

Neuromuscular Disorders

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1 December 2017

12

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1 December 2017

10

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1 December 2017

958-963

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Unusual type of benign x-linked muscular dystrophy

1 December 2017

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900178-5

7 January 2021

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

7 January 2021

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900178-5

7 January 2021

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

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https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900178-5

7 January 2021

Nuclear lamins: their structure, assembly, and interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

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/10.1016%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

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/10.1016%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

7 January 2021

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900178-5

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%2FS0960-8966%2802%2900178-5

7 January 2021

Intermediate filaments: structure, dynamics, function, and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900178-5

7 January 2021

10.1016/S0960-8966(02)00178-5

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DOI

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1 December 2017

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