Genes and brain malformations associated with abnormal neuron positioning (Q26779045)

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29 February 2020

1 reference

29 April 2021

Genes and brain malformations associated with abnormal neuron positioning (English)

1 reference

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29 February 2020

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12 September 2019

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1

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29 February 2020

author name string

Minhan Ka

series ordinal

2

1 reference

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29 February 2020

Eui-Man Jung

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26541977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Woo-Yang Kim

series ordinal

4

1 reference

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29 February 2020

language of work or name

English

0 references

publication date

5 November 2015

4 references

12 September 2019

12 October 2019

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29 February 2020

29 April 2021

4 references

12 September 2019

12 October 2019

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8

1 reference

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issue

1

1 reference

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page(s)

72

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Creative Commons Attribution 4.0 International

29 February 2020

copyright license

3 references

12 September 2019

12 October 2019

The involvement of Reelin in neurodevelopmental disorders

29 April 2021

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

7 April 2017

Walker-Warburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Reelin is a ligand for lipoprotein receptors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Purification and cloning of a brefeldin A-inhibited guanine nucleotide-exchange protein for ADP-ribosylation factors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Reelin and brain development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Polymicrogyria and absence of pineal gland due to PAX6 mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Lissencephaly and the molecular basis of neuronal migration

7 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

7 April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Adult neurogenesis and neural stem cells of the central nervous system in mammals

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Neurons derived from radial glial cells establish radial units in neocortex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Dendritic anomalies in disorders associated with mental retardation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Doublecortin, a stabilizer of microtubules

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Excitatory projection neuron subtypes control the distribution of local inhibitory interneurons in the cerebral cortex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Evolution of the neocortex: a perspective from developmental biology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Reelin promotes hippocampal dendrite development through the VLDLR/ApoER2-Dab1 pathway

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Characterization of CNS precursor subtypes and radial glia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Restricted proliferation and migration of postnatally generated neurons derived from the forebrain subventricular zone

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Mode of cell migration to the superficial layers of fetal monkey neocortex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

RTP801/REDD1 regulates the timing of cortical neurogenesis and neuron migration

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Cytoplasmic dynein and LIS1 are required for microtubule advance during growth cone remodeling and fast axonal outgrowth

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Neuronal subtype specification in the cerebral cortex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Regulation of cerebral cortical neurogenesis by the Pax6 transcription factor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Filamin A mediated Big2 dependent endocytosis: From apical abscission to periventricular heterotopia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Lhx6 directly regulates Arx and CXCR7 to determine cortical interneuron fate and laminar position.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Production and organization of neocortical interneurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Molecular logic of neocortical projection neuron specification, development and diversity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Filamin A regulates neuronal migration through brefeldin A-inhibited guanine exchange factor 2-dependent Arf1 activation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

LIS1 controls mitosis and mitotic spindle organization via the LIS1-NDEL1-dynein complex.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Integration of GABAergic interneurons into cortical cell assemblies: lessons from embryos and adults

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

ApoER2 and VLDLr are required for mediating reelin signalling pathway for normal migration and positioning of mesencephalic dopaminergic neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

LIS1 functions in normal development and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

ARX regulates cortical intermediate progenitor cell expansion and upper layer neuron formation through repression of Cdkn1c

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Integrative mechanisms of oriented neuronal migration in the developing brain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

A genomic view of mosaicism and human disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Cytoskeleton in action: lissencephaly, a neuronal migration disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Shaping our minds: stem and progenitor cell diversity in the mammalian neocortex

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Focal cortical dysplasia - review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Neuronal stem cells in the central nervous system and in human diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Molecular genetics of neuronal migration disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

CEDNIK syndrome results from loss-of-function mutations in SNAP29.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

ARX spectrum disorders: making inroads into the molecular pathology

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Loss of SNAP29 impairs endocytic recycling and cell motility

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Novel embryonic neuronal migration and proliferation defects in Dcx mutant mice are exacerbated by Lis1 reduction

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

New trends in neuronal migration disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Neuronal migration disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Lis1/dynactin regulates metaphase spindle orientation in Drosophila neuroblasts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Pathophysiological mechanisms of focal cortical dysplasia: a critical review of human tissue studies and animal models.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Neuronal migration in the adult brain: are we there yet?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Molecular genetic determinants of human brain size

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Recent progress in understanding the role of Reelin in radial neuronal migration, with specific emphasis on the dentate gyrus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

SRPX2 mutations in disorders of language cortex and cognition

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Neuronal migration disorders, genetics, and epileptogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Filamin A: phenotypic diversity

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Genetics of the polymicrogyria syndromes.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Analysis of chromosomal instability in focal cortical dysplasia of Taylor's balloon cell type

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Mechanism of microtubule stabilization by doublecortin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Terminology and classification of the cortical dysplasias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Unique astrocyte ribbon in adult human brain contains neural stem cells but lacks chain migration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Megalin functions as an endocytic sonic hedgehog receptor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Radiologic-pathologic correlation in focal cortical dysplasia and hemimegalencephaly in 18 children

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Distinct cortical migrations from the medial and lateral ganglionic eminences.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Patient mutations in doublecortin define a repeated tubulin-binding domain

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Radial glia phenotype: origin, regulation, and transdifferentiation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Neuronal migration disorders: from genetic diseases to developmental mechanisms

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Fukuyama congenital muscular dystrophy: a neuroradiologic review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Focal dysplasia of the cerebral cortex in epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Neuronal migration and contact guidance in the primate telencephalon

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Somatic activation of AKT3 causes hemispheric developmental brain malformations

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Hemimegalencephaly: a study of abnormalities occurring outside the involved hemisphere

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Separate progenitors for radial and tangential cell dispersion during development of the cerebral neocortex

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Aberrant neuronal development in hemimegalencephaly: immunohistochemical and Golgi studies

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Causal heterogeneity in isolated lissencephaly

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Biased selection of leading process branches mediates chemotaxis during tangential neuronal migration.

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

The doublecortin and doublecortin-like kinase 1 genes cooperate in murine hippocampal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Neuroepithelial stem cell proliferation requires LIS1 for precise spindle orientation and symmetric division.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Malformations of cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Cajal-Retzius cells, Reelin, and the formation of layers

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Miller--Dieker syndrome, type 1 lissencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Classification system for malformations of cortical development: update 2001.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

A structural basis for reading fluency: white matter defects in a genetic brain malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

AMP-activated protein kinase inhibits angiotensin II-stimulated vascular smooth muscle cell proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Periventricular heterotopia associated with chromosome 5p anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Periventricular heterotopia in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

LRP2 is an auxiliary SHH receptor required to condition the forebrain ventral midline for inductive signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Megalencephaly, mega corpus callosum, and complete lack of motor development: Delineation of a rare syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Posterior quadrantic dysplasia or hemi-hemimegalencephaly: a characteristic brain malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Negative regulation of neural stem/progenitor cell proliferation by the Pten tumor suppressor gene in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Pten deletion in adult hippocampal neural stem/progenitor cells causes cellular abnormalities and alters neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Disturbance of Notch-1 and Wnt signalling proteins in neuroglial balloon cells and abnormal large neurons in focal cortical dysplasia in human cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Identification of Arx targets unveils new candidates for controlling cortical interneuron migration and differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Filamin Amutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-015-0164-4

Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Gene symbol: FLNA. Disease: Ehlers-Danlos syndrome and periventricular nodular heterotopia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4635534

Expression of Neural Stem Cell Surface Marker CD133 in Balloon Cells of Human Focal Cortical Dysplasia

28 November 2018

1 reference

12 December 2020

[Type II lissencephaly: presentation of intermediate form]

1 reference

12 December 2020

Combined signaling through ERK, PI3K/AKT, and RAC1/p38 is required for met-triggered cortical neuron migration

1 reference

12 December 2020

Expanding the phenotype associated with missense mutations of the ARX gene

1 reference

12 December 2020

Role of GTP in the assembly of microtubules

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

10.1186/S13041-015-0164-4

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3169026

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26541977%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 February 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s13041-015-0164-4

OpenCitations bibliographic resource ID

3169026

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26541977%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

26541977

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26541977%20AND%20SRC:MED&resulttype=core&format=json