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Genetic malformations of the human cerebral cortex
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
review article
1 reference
stated in
Europe PubMed Central
title
Genetic malformations of the human cerebral cortex
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
author name string
Walsh CA
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
language of work or name
English
0 references
publication date
1 May 1999
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
published in
Neuron
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
volume
23
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
page(s)
19-29
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
cites work
Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations
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Band heterotopias: a newly recognized neuronal migration anomaly
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Band heterotopia: correlation of outcome with magnetic resonance imaging parameters
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A classification scheme for malformations of cortical development
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Crossref
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Microlissencephaly: a heterogeneous malformation of cortical development
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7 January 2021
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Epilepsy and anomalies of neuronal migration: MRI and clinical aspects
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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
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The spleen protein-tyrosine kinase TPK-IIB is highly similar to the catalytic domain of p72syk
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Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.
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Time of origin or corresponding cell classes in the cerebral cortex of normal and reeler mutant mice: an autoradiographic analysis.
1 reference
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7 January 2021
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Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
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Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
1 reference
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7 January 2021
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Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping
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Crossref
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A role for Cajal-Retzius cells and reelin in the development of hippocampal connections.
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A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
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Familial band heterotopias simulating tuberous sclerosis.
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7 January 2021
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Lissencephaly and other malformations of cortical development: 1995 update
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Crossref
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https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
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Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development
1 reference
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Crossref
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Identification and characterization of the tuberous sclerosis gene on chromosome 16
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7 January 2021
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The mechanism of arrest of neuronal migration in the Zellweger malformation: An hypothesis based upon cytoarchitectonic analysis
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Crossref
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https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
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Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: a new syndrome?
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
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Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder.
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
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Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
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Developmental dyslexia: four consecutive patients with cortical anomalies
1 reference
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Crossref
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https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
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Drosophila abl tyrosine kinase in embryonic CNS axons: a role in axonogenesis is revealed through dosage-sensitive interactions with disabled
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
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Cyclin-dependent kinase 5-deficient mice demonstrate novel developmental arrest in cerebral cortex
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Holoprosencephaly: a defect in brain patterning.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
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Hedgehog and patched in neural development and disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
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Developmental Foix-Chavany-Marie syndrome in identical twins.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytology and neuron-glial apposition of migrating cerebellar granule cells in vitro
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Microdysgenesis in resected temporal neocortex: Incidence and clinical significance in focal epilepsy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterogeneity of Kallmann's syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Brain dynein (MAP1C) localizes on both anterogradely and retrogradely transported membranous organelles in vivo.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Bone morphogenetic proteins in development
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuronal position in the developing brain is regulated by mouse disabled-1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Periventricular heterotopia and epilepsy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial periventricular nodular heterotopia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The epileptic spectrum in the congenital bilateral perisylvian syndrome. CBPS Multicenter Collaborative Study.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tuberous sclerosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A role for the roof plate and its resident TGFbeta-related proteins in neuronal patterning in the dorsal spinal cord.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Actin crosslinking proteins at the leading edge
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mirror movements in X-linked Kallmann's syndrome. I. A neurophysiological study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Holoprosencephaly: from Homer to Hedgehog.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear migration, nucleokinesis and lissencephaly.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The cdk5/p35 kinase is essential for neurite outgrowth during neuronal differentiation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The p35/Cdk5 kinase is a neuron-specific Rac effector that inhibits Pak1 activity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lissencephaly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Targeted disruption of the cyclin-dependent kinase 5 gene results in abnormal corticogenesis, neuronal pathology and perinatal death
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The small GTPase RalA targets filamin to induce filopodia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Descriptive epidemiology of holoprosencephaly and arhinencephaly in metropolitan Atlanta, 1968-1992.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Motility and cytoskeletal organization of migrating cerebellar granule neurons
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Induction of molecular layer ectopias by puncture wounds in newborn rats and mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new autosomal recessive syndrome of pachygyria.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Morphological substrates of infantile spasms: studies based on surgically resected cerebral tissue
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tuberous sclerosis-like lesions in epileptogenic human neocortex lack allelic loss at the TSC1 and TSC2 regions.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
NudF, a nuclear migration gene in Aspergillus nidulans, is similar to the human LIS-1 gene required for neuronal migration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0896-6273%2800%2980749-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0896-6273(00)80749-7
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
PubMed ID
10402190
1 reference
stated in
Europe PubMed Central
PubMed ID
10402190
retrieved
28 July 2017
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