Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases. (Q30726699)

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4 March 2020

title

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases (English)

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4 March 2020

1

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4 March 2020

Filippo Arrigoni

2

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4 March 2020

Maria Teresa Bassi

7

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4 March 2020

Renato Borgatti

8

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4 March 2020

author name string

Anna Cavallini

3

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4 March 2020

Erika Tenderini

4

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Cinzia Baschirotto

5

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4 March 2020

Fabio Triulzi

6

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publication date

7 January 2014

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Developmental Medicine and Child Neurology

4 March 2020

published in

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volume

56

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issue

4

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page(s)

354-360

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

4 March 2020

cites work

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Retrospective diagnosis of congenital cytomegalovirus infection and cortical maldevelopment

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High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

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Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

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

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Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

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Midbrain-hindbrain involvement in lissencephalies

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

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

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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Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

21 January 2018

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

21 January 2018

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Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary

21 January 2018

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TUBA1A mutation-associated lissencephaly: case report and review of the literature

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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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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Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

21 January 2018

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MicroTUB(B3)ules and brain development

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

21 January 2018

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

21 January 2018

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beta-Tubulin C354 mutations that severely decrease microtubule dynamics do not prevent nuclear migration in yeast

21 January 2018

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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

21 January 2018

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The Role of Tuba1a in Adult Hippocampal Neurogenesis and the Formation of the Dentate Gyrus

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/DMCN.12370

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4 March 2020

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