(Q57270390)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

title

Mutation analysis in Emery-Dreifuss muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

Emery-Dreifuss muscular dystrophy

10 December 2019

main subject

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

author name string

Y Nevo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

M Al-Lozi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

A S Parsadanian

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

J L Elliott

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

A Pestronk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

publication date

1 July 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

456-459

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

Survival in x-chromosomal muscular dystrophy

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

Unusual type of benign x-linked muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

Emery-dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

Emery-Dreifuss muscular dystrophy and other related disorders

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

Emery-Dreifuss syndrome: genetic and clinical varieties

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

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/S0887-8994(99)50023-5

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/S0887-8994(99)50023-5

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/S0887-8994(99)50023-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

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/S0887-8994(99)50023-5

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

Steroid‐responsive myopathy with deficient chondroitin sulfate C in skeletal muscle connective tissue

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

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/S0887-8994(99)50023-5

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/S0887-8994(99)50023-5

7 January 2021

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

1 reference

https://api.crossref.org/works/10.1016/S0887-8994(99)50023-5

7 January 2021

10.1016/S0887-8994(99)00023-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10428430 AND SRC:MED&resulttype=core&format=json

10 December 2019

1 reference