Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. - Wikidata - wikimedia - TriplyDB

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

http://www.wikidata.org/entity/Q34479643

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Early rescue of interneuron disease trajectory in developmental epilepsies.Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study.Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasia KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.Case Report of Proliferative Peripheral Retinopathy in Two Familial Lissencephaly Infants with Miller-Dieker Syndrome Comprehensive genotype-phenotype correlation in lissencephaly

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Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

http://www.wikidata.org/entity/Q34479643

description

2015 nî lūn-bûn

@nan

2015 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի մայիսին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

@zh-hk

2015年論文

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2015年論文

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2015年论文

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name

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@ast

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@en

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@nl

type

label

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@ast

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@en

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@nl

prefLabel

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@ast

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@en

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

@nl

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FNINS.2015.00181

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Frontiers in Neuroscience

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Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias

@en

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Mitsuhiro Kato

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A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function

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

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

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

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

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

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181

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