Emery-Dreifuss muscular dystrophy (Q28215723)

European Journal of Human Genetics

Europe PubMed Central

title

Emery-Dreifuss muscular dystrophy (English)

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1 reference

Gisèle Bonne

2

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author name string

Anne Helbling-Leclerc

series ordinal

1

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Ketty Schwartz

series ordinal

3

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language of work or name

English

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publication date

March 2002

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published in

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volume

10

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issue

3

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page(s)

157-61

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cites work

Emery-Dreifuss muscular dystrophy - a 40 year retrospective

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

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/10.1038%2FSJ.EJHG.5200744

7 January 2021

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

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/10.1038%2FSJ.EJHG.5200744

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

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/10.1038%2FSJ.EJHG.5200744

7 January 2021

Review: nuclear lamins--structural proteins with fundamental functions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

Genomic structure of the mouse A-type lamin gene locus encoding somatic and germ cell-specific lamins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

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/10.1038%2FSJ.EJHG.5200744

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/10.1038%2FSJ.EJHG.5200744

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

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/10.1038%2FSJ.EJHG.5200744

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

Interaction between emerin and nuclear lamins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

Direct interaction between emerin and lamin A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

The Emery-Dreifuss Muscular Dystrophy Mutation Database

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

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/10.1038%2FSJ.EJHG.5200744

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/10.1038%2FSJ.EJHG.5200744

7 January 2021

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/10.1038%2FSJ.EJHG.5200744

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021

Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744

7 January 2021