(Q33790169)

29 July 2017

1 reference

title

Molecular genetics of neuronal migration disorders (English)

1 reference

29 July 2017

Molecular Genetics of Neuronal Migration Disorders (English)

1 reference

DOI

https://api.crossref.org/works/10.1007/S11910-010-0176-5

21 November 2024

1 reference

Judy S. Liu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21222180

21 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21222180

21 November 2024

publication date

1 April 2011

1 reference

29 July 2017

April 2011

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21222180

full work available at URL

21 November 2024

http://www.current-reports.com/1528-4042/11/171

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21222180

http://link.springer.com/content/pdf/10.1007/s11910-010-0176-5.pdf

21 November 2024

1 reference

https://api.crossref.org/works/10.1007/S11910-010-0176-5

http://link.springer.com/article/10.1007/s11910-010-0176-5/fulltext.html

21 November 2024

1 reference

https://api.crossref.org/works/10.1007/S11910-010-0176-5

http://link.springer.com/content/pdf/10.1007/s11910-010-0176-5

21 November 2024

1 reference

DOI

https://api.crossref.org/works/10.1007/S11910-010-0176-5

Current Neurology and Neuroscience Reports

21 November 2024

published in

1 reference

29 July 2017

volume

11

1 reference

29 July 2017

issue

2

1 reference

29 July 2017

page(s)

171-178

1 reference

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

29 July 2017

1 reference

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

Identifiers

DOI

1 reference

Dimensions Publication ID

29 July 2017

1038652912

0 references

1 reference