(Q42519980)

1 November 2017

title

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. (English)

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1 November 2017

2

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13

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1 November 2017

Seo-Kyung Chung

5

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author name string

Thomas D Cushion

1

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1 November 2017

Jonathan G L Mullins

3

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1 November 2017

Neil Stoodley

4

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1 November 2017

Andrew E Fry

6

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1 November 2017

Ute Hehr

7

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1 November 2017

Roxana Gunny

8

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1 November 2017

Arthur S Aylsworth

9

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1 November 2017

Prab Prabhakar

10

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1 November 2017

Gökhan Uyanik

11

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1 November 2017

Julia Rankin

12

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1 November 2017

Daniela T Pilz

14

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1 November 2017

language of work or name

English

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publication date

29 January 2013

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1 November 2017

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1 November 2017

volume

136

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1 November 2017

issue

Pt 2

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1 November 2017

page(s)

536-548

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

1 November 2017

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Trekking across the brain: the journey of neuronal migration

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Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

21 January 2018

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Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

21 January 2018

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A developmental and genetic classification for malformations of cortical development: update 2012

21 January 2018

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Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

21 January 2018

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Microtubule polymerization dynamics

21 January 2018

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Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex

21 January 2018

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

21 January 2018

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Protein-protein interactions, cytoskeletal regulation and neuronal migration

21 January 2018

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Genotypically defined lissencephalies show distinct pathologies

21 January 2018

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

21 January 2018

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Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

21 January 2018

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Microtubule-dependent transport in neurons: steps towards an understanding of regulation, function and dysfunction

21 January 2018

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Transcription factors in glutamatergic neurogenesis: conserved programs in neocortex, cerebellum, and adult hippocampus

21 January 2018

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21 January 2018

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

21 January 2018

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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.

21 January 2018

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Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization

21 January 2018

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 January 2018

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Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

21 January 2018

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

21 January 2018

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

21 January 2018

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Refined structure of alpha beta-tubulin at 3.5 A resolution

21 January 2018

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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

21 January 2018

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Guiding neuronal cell migrations

21 January 2018

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Dynamic instability of microtubule growth

21 January 2018

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Distinct roles of doublecortin modulating the microtubule cytoskeleton.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

21 January 2018

1 reference

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Fine architecture and mutation mapping of human brain inhibitory system ligand gated ion channels by high-throughput homology modeling.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

21 January 2018

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High-resolution model of the microtubule

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

Structure of the alpha beta tubulin dimer by electron crystallography

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

The mammalian beta-tubulin repertoire: hematopoietic expression of a novel, heterologous beta-tubulin isotype

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS338

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS338

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1 November 2017

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