(Q30666516)

26 June 2017

title

Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis (English)

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Emery-Dreifuss muscular dystrophy

26 June 2017

main subject

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autosomal dominant Emery-Dreifuss muscular dystrophy

inferred from title

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Colomer J

1

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26 June 2017

Iturriaga C

2

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26 June 2017

Bonne G

3

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26 June 2017

Schwartz K

4

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26 June 2017

Manilal S

5

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26 June 2017

Morris GE

6

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26 June 2017

Puche M

7

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26 June 2017

Fernández-Alvarez E

8

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26 June 2017

publication date

1 January 2002

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26 June 2017

published in

Neuromuscular Disorders

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26 June 2017

volume

12

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26 June 2017

issue

1

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26 June 2017

page(s)

19-25

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26 June 2017

cites work

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Unusual type of benign x-linked muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

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%2801%2900239-5

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%2801%2900239-5

7 January 2021

An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

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%2801%2900239-5

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%2801%2900239-5

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%2801%2900239-5

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%2801%2900239-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Nuclear lamins: their structure, assembly, and interactions

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

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%2801%2900239-5

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%2801%2900239-5

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%2801%2900239-5

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%2801%2900239-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

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%2801%2900239-5

7 January 2021

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

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%2801%2900239-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

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%2801%2900239-5

7 January 2021

Rigid spine syndrome and rigid spine sign in myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

The rigid spine syndrome--a myopathy of uncertain nosological position

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Non-progressive central core disease with severe congenital scoliosis: a case report

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Two siblings with nemaline myopathy presenting with rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Familial mixed congenital myopathy with rigid spine phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Presence of emerinopathy in cases of rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

The Emery-Dreifuss Muscular Dystrophy Mutation Database

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900239-5

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/10.1016%2FS0960-8966%2801%2900239-5

7 January 2021

10.1016/S0960-8966(01)00239-5

Identifiers

DOI

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26 June 2017

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