(Q57562617)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

Emery-Dreifuss muscular dystrophy

10 November 2019

main subject

pathology

0 references

1 reference

based on heuristic

inferred from title

autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Gisèle Bonne

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Giovanni G. Camici

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

C A Sewry

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

E Mercuri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

L Feng

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

G E Morris

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

F Muntoni

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 August 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

Neuropathology and Applied Neurobiology

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

27

1 reference

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10 November 2019

issue

4

1 reference

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10 November 2019

page(s)

281-290

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Diagnostic protein expression in human muscle biopsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Nuclear proteins and cell death in inherited neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Immunocytochemical analysis of human muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

The nuclear envelope, muscular dystrophy and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.0305-1846.2001.00323.X

10.1046/J.0305-1846.2001.00323.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11532159%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference