Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. (Q42519980)

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title

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

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13

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Seo-Kyung Chung

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Daniela T Pilz

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object named as

Daniela T Pilz

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Neil Stoodley

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Thomas D Cushion

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Jonathan G L Mullins

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Andrew E Fry

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Ute Hehr

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Roxana Gunny

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Arthur S Aylsworth

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Prab Prabhakar

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Gökhan Uyanik

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Julia Rankin

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language of work or name

English

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publication date

29 January 2013

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volume

136

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issue

Pt 2

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

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Protein-protein interactions, cytoskeletal regulation and neuronal migration

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Genotypically defined lissencephalies show distinct pathologies

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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

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

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

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Dynamic instability of microtubule growth

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Distinct roles of doublecortin modulating the microtubule cytoskeleton.

21 January 2018

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

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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

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

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS338

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1 November 2017

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