(Q48022731)

7 February 2018

title

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

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7 February 2018

Emery-Dreifuss muscular dystrophy

main subject

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1

Muntoni F

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7 February 2018

author name string

Lichtarowicz-Krynska EJ

2

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7 February 2018

Sewry CA

3

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7 February 2018

Manilal S

4

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7 February 2018

Recan D

5

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7 February 2018

Llense S

6

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7 February 2018

Taylor J

7

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7 February 2018

Morris GE

8

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7 February 2018

Dubowitz V

9

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7 February 2018

publication date

1 April 1998

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7 February 2018

published in

Neuromuscular Disorders

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7 February 2018

volume

8

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7 February 2018

issue

2

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7 February 2018

page(s)

72-76

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7 February 2018

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Dystrophin-associated proteins in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Towards the classification of the autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

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%2898%2900006-6

7 January 2021

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

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%2898%2900006-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Follow up study of cardiac involvement in Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Unusual type of benign x-linked muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

X-linked scapuloperoneal syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900006-6

7 January 2021

10.1016/S0960-8966(98)00006-6

Identifiers

DOI

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7 February 2018

1 reference

7 February 2018