(Q34142314)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

Bilateral frontoparietal polymicrogyria

15 February 2020

main subject

0 references

0 references

6

1 reference

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15 February 2020

Nadia Bahi-Buisson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Karine Poirier

2

1 reference

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15 February 2020

Nathalie Boddaert

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Nicola Specchio

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Jerome Rambaud

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Monique Elmaleh-bergès

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Laurent Villard

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

11

Michel Baulac

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Catherine Fallet-Bianco

4

object named as

Catherine Fallet-Bianco

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

14

Vincent des Portes

1 reference

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15 February 2020

author name string

Okay Caglayan

7

1 reference

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15 February 2020

Karine Lascelles

8

1 reference

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15 February 2020

Caroline Elie

9

1 reference

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15 February 2020

Isabelle An

12

1 reference

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15 February 2020

Patricia Dias

13

1 reference

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15 February 2020

Marie Laure Moutard

15

1 reference

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15 February 2020

Christine Soufflet

16

1 reference

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15 February 2020

Cherif Beldjord

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Jamel Chelly

20

1 reference

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15 February 2020

language of work or name

English

0 references

publication date

7 October 2010

1 reference

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15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

3194-3209

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

Serial MRI in Fukuyama type congenital muscular dystrophy

15 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

A developmental and genetic classification for malformations of cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Diagnostic criteria for Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Neuronal migration disorders: from genetic diseases to developmental mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Abnormal glycosylation of dystroglycan in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Diversifying microtubules in brain development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Genetics of the polymicrogyria syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Midbrain-hindbrain involvement in lissencephalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Orphan G protein-coupled receptor GPR56 plays a role in cell transformation and tumorigenesis involving the cell adhesion pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

GPR56-regulated granule cell adhesion is essential for rostral cerebellar development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

GPR56 regulates pial basement membrane integrity and cortical lamination

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Targeting dystroglycan in the brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Serial EEG and sleep polygraphic studies on lissencephaly (agyria-pachygyria).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

G protein-coupled receptor-dependent development of human frontal cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Cortical dysgenesis: serial EEG findings in children and adults.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

EEG fast activities in lissencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

MRI of the brain in muscle-eye-brain (MEB) disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWQ259

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWQ259

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20929962%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference