Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly - sprookjes - yvandenbroek - TriplyDB

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

http://www.wikidata.org/entity/Q34462730

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TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.Variability of Ponto-cerebellar Fibers by Diffusion Tensor Imaging in Diverse Brain Malformations.Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.Novel α-tubulin mutation disrupts neural development and tubulin proteostasis Disorders of Microtubule Function in Neurons: Imaging Correlates Consensus Paper: Cerebellar Development.Cellular and molecular introduction to brain development Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration.The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.The function of sperm-associated antigen 6 in neuronal proliferation and differentiation.TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome.The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.The histopathology of polymicrogyria: a series of 71 brain autopsy studies.De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.Lissencephaly: Expanded imaging and clinical classification.Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging.A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1 Comprehensive genotype-phenotype correlation in lissencephaly

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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

http://www.wikidata.org/entity/Q34462730

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2014 nî lūn-bûn

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2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2014 թվականի հուլիսին հրատարակված գիտական հոդված

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2014年の論文

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Mutations in tubulin genes are ...... t including microlissencephaly

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Mutations in tubulin genes are ...... t including microlissencephaly

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Mutations in tubulin genes are ...... t including microlissencephaly

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Mutations in tubulin genes are ...... t including microlissencephaly

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Mutations in tubulin genes are ...... t including microlissencephaly

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Mutations in tubulin genes are ...... t including microlissencephaly

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Mutations in tubulin genes are ...... t including microlissencephaly

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Mutations in tubulin genes are ...... t including microlissencephaly

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Acta neuropathologica communications

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Mutations in tubulin genes are ...... t including microlissencephaly

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Aurélie Toussaint

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Benoit Lhermitte

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Bettina Bessieres

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Catherine Fallet-Bianco

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Cherif Beldjord

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Fabien Guimiot

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Ferechte Razavi

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Frédérique Jossic

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Jamel Chelly

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Jelena Martinovich

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Walker-Warburg syndrome

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

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

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

Refined structure of alpha beta-tubulin at 3.5 A resolution

Structure of the alpha beta tubulin dimer by electron crystallography

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

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown

GPR56 regulates pial basement membrane integrity and cortical lamination

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

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