(Q42442465)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

Cecilia Jimenez-Mallebrera

4 November 2019

author

1

1 reference

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4 November 2019

Sue Brown

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

Silvia Torelli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Lucy Feng

4

1 reference

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4 November 2019

Martin Brockington

5

1 reference

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4 November 2019

Caroline A Sewry

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Daniel Beltrán-Valero De Bernabé

7

1 reference

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4 November 2019

Francesco Muntoni

8

1 reference

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4 November 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Paediatric Neurology

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

7

1 reference

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4 November 2019

issue

3

1 reference

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4 November 2019

page(s)

129-137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

Diagnostic criteria for Walker-Warburg syndrome

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

The fukutin protein family--predicted enzymes modifying cell-surface molecules

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Mutations in the integrin alpha7 gene cause congenital myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Abnormal localization of laminin subunits in muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Muscle-eye-brain disease: a neuropathological study

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Walker-Warburg syndrome: neurologic features and muscle membrane structure

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Laminin 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebroocular dysplasia-muscular dystrophy)

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Electron microscopic examination of basal lamina in Fukuyama congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Basement membrane abnormality in merosin-negative congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

SH3 domain-mediated interaction of dystroglycan and Grb2

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

A stoichiometric complex of neurexins and dystroglycan in brain

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Dystroglycan distribution in adult mouse brain: a light and electron microscopy study

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900042-4

7 January 2021

10.1016/S1090-3798(03)00042-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12788039%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference