(Q77925412)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

9 December 2019

title

The Emery-Dreifuss Muscular Dystrophy Mutation Database (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

Emery-Dreifuss muscular dystrophy

9 December 2019

main subject

1 reference

Yates JR

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

9 December 2019

Wehnert M

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 May 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

9 December 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

9 December 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

9 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

199

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916 AND SRC:MED&resulttype=core&format=json

9 December 2019

cites work

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

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/S0960-8966(98)00121-7

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/S0960-8966(98)00121-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

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/S0960-8966(98)00121-7

7 January 2021

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

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/S0960-8966(98)00121-7

7 January 2021

X linked muscular dystrophy with contractures.

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

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/S0960-8966(98)00121-7

7 January 2021

Emery-Dreifuss muscular dystrophy with unusual features

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

Cardiac Features of an Unusual X-Linked Humeroperoneal Neuromuscular Disease

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

Emery‐dreifuss humeroperoneal muscular dystorphy: An X‐linked myopathy with unusual contractures and bradycardia

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

Survival in x-chromosomal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

Unusual type of benign x-linked muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

A linkage study of Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII.

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

X-linked scapuloperoneal syndrome

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

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/S0960-8966(98)00121-7

7 January 2021

A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021

Isolation and characterization of the complete mouse emerin gene

1 reference

https://api.crossref.org/works/10.1016/S0960-8966(98)00121-7

7 January 2021