(Q61978469)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

1 reference

3

1 reference

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7 November 2019

Silvia Bione

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

S Vohanka

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Vytopil

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Z Lukas

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Z Kadanka

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

J Schildberger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

R Ricotti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

D Toniolo

9

1 reference

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7 November 2019

publication date

1 May 2001

1 reference

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7 November 2019

published in

Neuromuscular Disorders

1 reference

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7 November 2019

volume

11

1 reference

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7 November 2019

issue

4

1 reference

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7 November 2019

page(s)

411-413

1 reference

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Unusual type of benign x-linked muscular dystrophy

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900206-6

7 January 2021

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900206-6

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%2800%2900206-6

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%2800%2900206-6

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%2800%2900206-6

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%2800%2900206-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900206-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900206-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900206-6

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%2800%2900206-6

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%2FS0960-8966%2800%2900206-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900206-6

7 January 2021

10.1016/S0960-8966(00)00206-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369194%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference