(Q33790169)

29 July 2017

1 reference

title

Molecular genetics of neuronal migration disorders (English)

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29 July 2017

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Judy S Liu

1

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29 July 2017

1 April 2011

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Current Neurology and Neuroscience Reports

29 July 2017

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29 July 2017

11

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29 July 2017

2

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29 July 2017

171-178

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https://scigraph.springernature.com/pub.10.1007/s11910-010-0176-5

29 July 2017

0 references

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Developmental differences of the major forebrain commissures in lissencephalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Cdk5 phosphorylation of doublecortin ser297 regulates its effect on neuronal migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Doublecortin associates with microtubules preferentially in regions of the axon displaying actin-rich protrusive structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Distinct roles of doublecortin modulating the microtubule cytoskeleton.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Mechanism of microtubule stabilization by doublecortin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Loss of alpha-tubulin polyglutamylation in ROSA22 mice is associated with abnormal targeting of KIF1A and modulated synaptic function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Tubulin tyrosination navigates the kinesin-1 motor domain to axons

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Neuronal polarity and the kinesin superfamily proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

LIS1 and NudE induce a persistent dynein force-producing state

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

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/10.1007%2FS11910-010-0176-5

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/10.1007%2FS11910-010-0176-5

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

ARX spectrum disorders: making inroads into the molecular pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Opposing actions of Arx and Pax4 in endocrine pancreas development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Neuronal migration disorders, genetics, and epileptogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0176-5

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

21 January 2018

1 reference

12 December 2020

Cyclin-dependent kinase 5-deficient mice demonstrate novel developmental arrest in cerebral cortex

1 reference

12 December 2020

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

1 reference

12 December 2020

Neocortical histogenesis in normal and reeler mice: a developmental study based upon [3H]thymidine autoradiography.

1 reference

12 December 2020

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

1 reference

12 December 2020

10.1007/S11910-010-0176-5

Identifiers

DOI

1 reference

PubMed ID

21222180

Dimensions Publication ID

29 July 2017

0 references

1 reference

PubMed ID

21222180