(Q48270083)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20236121%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum (English)

1 reference

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20 January 2020

1 reference

7

1 reference

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20 January 2020

Hans van Bokhoven

9

1 reference

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20 January 2020

author name string

J Van Reeuwijk

1

1 reference

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20 January 2020

M J W Olderode-Berends

2

1 reference

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20 January 2020

C Van den Elzen

3

1 reference

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20 January 2020

O F Brouwer

4

1 reference

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20 January 2020

T Roscioli

5

1 reference

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20 January 2020

M G Van Pampus

6

1 reference

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20 January 2020

H G Brunner

8

1 reference

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20 January 2020

F A Hol

10

1 reference

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20 January 2020

publication date

11 February 2010

1 reference

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20 January 2020

1 reference

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20 January 2020

volume

78

1 reference

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20 January 2020

issue

3

1 reference

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20 January 2020

page(s)

275-281

1 reference

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FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01384.X

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01384.X

POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01384.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01384.X