(Q58052185)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257475%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies (English)

1 reference

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5 November 2019

11

1 reference

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5 November 2019

author name string

L Politano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257475%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

L Passamano

3

1 reference

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5 November 2019

V Petretta

4

1 reference

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5 November 2019

S Papparella

6

1 reference

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5 November 2019

P Raia

9

1 reference

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5 November 2019

A Pini

10

1 reference

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5 November 2019

G Nigro

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257475%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

V Nigro

2

1 reference

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5 November 2019

L I Comi

5

1 reference

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5 November 2019

G Nigro

7

1 reference

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5 November 2019

P F Rambaldi

8

1 reference

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5 November 2019

M A Giugliano

12

1 reference

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5 November 2019

M G Esposito

13

1 reference

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5 November 2019

publication date

1 March 2001

1 reference

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5 November 2019

published in

Neuromuscular Disorders

1 reference

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5 November 2019

volume

11

1 reference

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5 November 2019

issue

2

1 reference

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5 November 2019

page(s)

178-185

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257475%20AND%20SRC:MED&resulttype=core&format=json

Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Dystrophin-associated proteins in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Mutations in the sarcoglycan genes in patients with myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Identification of the Syrian hamster cardiomyopathy gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Subclinical cardiomyopathy in Becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Evaluation of the cardiomyopathy in becker muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Marked cardiac involvement in limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Cardiomyopathy of limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

Limb girdle muscular dystrophy: a non-invasive cardiac evaluation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

The heart in limb girdle muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

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%2800%2900174-7

7 January 2021

Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

7 January 2021

A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900174-7

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%2800%2900174-7

7 January 2021

10.1016/S0960-8966(00)00174-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257475%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference