(Q73685043)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

LGMD2E patients risk developing dilated cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

main subject

dilated cardiomyopathy

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

M Fanin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

P Melacini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

C Boito

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

E Pegoraro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

303-309

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

Processing of beta-dystroglycan by matrix metalloproteinase disrupts the link between the extracellular matrix and cell membrane via the dystroglycan complex.

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

The clinical spectrum of sarcoglycanopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Mutations in the sarcoglycan genes in patients with myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Identification of the Syrian hamster cardiomyopathy gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Defective association of dystrophin with sarcolemmal glycoproteins in the cardiomyopathic hamster heart

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Molecular pathogenesis of muscle degeneration in the delta-sarcoglycan-deficient hamster

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Concomitant deficiency of β- and γ-sarcoglycans in 20 α-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

Sarcoglycan isoforms in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900280-8

7 January 2021

10.1016/S0960-8966(02)00280-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12868499%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference