Emery-Dreifuss muscular dystrophy - a 40 year retrospective (Q28145710)

Emery-Dreifuss muscular dystrophy

Europe PubMed Central

title

Emery-Dreifuss muscular dystrophy - a 40 year retrospective (English)

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main subject

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A E Emery

1

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language of work or name

English

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publication date

June 2000

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published in

Neuromuscular Disorders

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volume

10

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issue

4-5

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page(s)

228-32

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cites work

Unusual type of benign x-linked muscular dystrophy

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7 January 2021

Emery-dreifuss muscular dystrophy

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7 January 2021

Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series

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7 January 2021

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis

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7 January 2021

Severe clinical expression in X-linked Emery–Dreifuss muscular dystrophy

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7 January 2021

60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands

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7 January 2021

Cardiac transplantation in female Emery-Dreifuss muscular dystrophy

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7 January 2021

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Muscular dystrophies: alterations in a limited number of cellular pathways?

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7 January 2021

Emerin deletions occurring on both Xq28 inversion backgrounds

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7 January 2021

The Emery-Dreifuss Muscular Dystrophy Mutation Database

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Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies

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

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

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7 January 2021

cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins

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7 January 2021

Mutational analysis using oligonucleotide microarrays

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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

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

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Creatine kinase, cell membrane and Duchenne muscular dystrophy

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Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy

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Distribution of emerin during the cell cycle

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Nuclear proteins and cell death in inherited neuromuscular disease

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Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy

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7 January 2021

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

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Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy

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7 January 2021

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

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7 January 2021

10.1016/S0960-8966(00)00105-X

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

10838246

1 reference

Consolidated OpenCitations Corpus – April 2017