(Q42517953)

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Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.

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20 February 2020

Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia (English)

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20 February 2020

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20 February 2020

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Akihisa Okumura

1

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20 February 2020

Masaharu Hayashi

2

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20 February 2020

Keiko Shimojima

3

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20 February 2020

Mitsuru Ikeno

4

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20 February 2020

Tomohisa Uchida

5

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20 February 2020

Jun-ichi Takanashi

6

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20 February 2020

Nobuhiko Okamoto

7

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20 February 2020

Ken Hisata

8

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20 February 2020

Hiromichi Shoji

9

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20 February 2020

Akira Saito

10

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20 February 2020

Tetsuko Kishida

12

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20 February 2020

Toshiaki Shimizu

13

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20 February 2020

Toshiyuki Yamamoto

14

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20 February 2020

publication date

13 December 2012

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20 February 2020

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20 February 2020

33

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20 February 2020

5

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20 February 2020

553-560

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20 February 2020

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Polymicrogyria without porencephaly/schizencephaly. MRI analysis of the spectrum and the prevalence of macroscopic findings in the clinical population

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Gelastic seizures in a child with focal cortical dysplasia of the cingulate gyrus.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Multimodal tangential migration of neocortical GABAergic neurons independent of GPI-anchored proteins

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

A developmental and genetic classification for midbrain-hindbrain malformations

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Extension of long leading processes and neuronal migration in the mammalian brain directed by the chemoattractant netrin-1.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Netrin-1-alpha3beta1 integrin interactions regulate the migration of interneurons through the cortical marginal zone.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Mutations in two regions of FLNB result in atelosteogenesis I and III.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Mutations in FLNB cause boomerang dysplasia

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis

1 reference

https://api.crossref.org/works/10.1111%2FNEUP.12007

21 January 2018

Identifiers

10.1111/NEUP.12007

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240987%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23240987%20AND%20SRC:MED&resulttype=core&format=json

20 February 2020

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