(Q54545820)

31 May 2018

title

Revised spectrum of mutations in sarcoglycanopathies. (English)

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31 May 2018

author name string

Madiha Trabelsi

1

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31 May 2018

Niloufar Kavian

2

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31 May 2018

Fatma Daoud

3

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31 May 2018

Virginie Commere

4

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31 May 2018

Nathalie Deburgrave

5

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31 May 2018

Caroline Beugnet

6

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31 May 2018

Stephane Llense

7

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31 May 2018

Jean Claude Barbot

8

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31 May 2018

Aurélie Vasson

9

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31 May 2018

Jean Claude Kaplan

10

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31 May 2018

France Leturcq

11

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31 May 2018

Jamel Chelly

12

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31 May 2018

publication date

20 February 2008

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31 May 2018

European Journal of Human Genetics

published in

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31 May 2018

volume

16

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31 May 2018

issue

7

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31 May 2018

page(s)

793-803

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31 May 2018

The sarcoglycan complex in limb-girdle muscular dystrophy

cites work

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Molecular basis of muscular dystrophies.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

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/10.1038%2FEJHG.2008.9

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/10.1038%2FEJHG.2008.9

7 January 2021

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

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/10.1038%2FEJHG.2008.9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

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/10.1038%2FEJHG.2008.9

7 January 2021

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Making sense of the limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Evaluation of cardiac and respiratory involvement in sarcoglycanopathies

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

The heart in limb girdle muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

A perfect message: RNA surveillance and nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

LGMD2E patients risk developing dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Primary γ-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

A novel mutation in two families with limb-girdle muscular dystrophy type 2C

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.9

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.9

1 reference

31 May 2018

1 reference

31 May 2018