Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations (Q36170406)

12 August 2017

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Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations (English)

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12 August 2017

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2

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12 August 2017

Elena Parrini

6

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Duccio M. Cordelli

object named as

Duccio Maria Cordelli

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3

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Emilio Franzoni

object named as

Emilio Franzoni

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5

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Renzo Guerrini

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1

object named as

Renzo Guerrini

1 reference

12 August 2017

4

Daniela Pucatti

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12 August 2017

15 February 2012

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European Journal of Human Genetics

12 August 2017

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12 August 2017

20

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12 August 2017

9

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12 August 2017

995-998

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https://scigraph.springernature.com/pub.10.1038/ejhg.2012.21

12 August 2017

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cites work

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

A developmental and genetic classification for malformations of cortical development

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

Developmental language disorder associated with polymicrogyria

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

Structure of the alpha beta tubulin dimer by electron crystallography

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3421113

23 September 2018

Identifiers

DOI

10.1038/EJHG.2012.21

1 reference

12 August 2017

1 reference

12 August 2017

1 reference

PMCID

3421113