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Human Brain Malformations and Their Lessons for Neuronal Migration

Data up to Jan 2025

Published2001
Citations233
References152

Total Citations Per Year

Abstract

References (152)

Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice

1996 • 1,902 citations

A protein related to extracellular matrix proteins deleted in the mouse mutant reeler

1995 • 1,720 citations

Actin-Based Cell Motility and Cell Locomotion

1996 • 1,536 citations

Doublecortin Is a Microtubule-Associated Protein and Is Expressed Widely by Migrating Neurons

1999 • 1,297 citations

Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis

1992 • 1,285 citations

Reeler/Disabled-like Disruption of Neuronal Migration in Knockout Mice Lacking the VLDL Receptor and ApoE Receptor 2

1999 • 1,231 citations

Slit Proteins Bind Robo Receptors and Have an Evolutionarily Conserved Role in Repulsive Axon Guidance

1999 • 1,155 citations

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

1993 • 1,067 citations

D type cyclins associate with multiple protein kinases and the DNA replication and repair factor PCNA

1992 • 1,023 citations

doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

1998 • 1,019 citations

Cyclin D1 provides a link between development and oncogenesis in the retina and breast

1995 • 1,017 citations

Slit Is the Midline Repellent for the Robo Receptor in Drosophila

1999 • 930 citations

Direct Binding of Reelin to VLDL Receptor and ApoE Receptor 2 Induces Tyrosine Phosphorylation of Disabled-1 and Modulates Tau Phosphorylation

1999 • 902 citations

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

2000 • 867 citations

Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia

1998 • 858 citations

CENTRAL NERVOUS SYSTEM NEURONAL MIGRATION

1999 • 808 citations

Reelin Is a Ligand for Lipoprotein Receptors

1999 • 803 citations

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1998 • 797 citations

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

1998 • 740 citations

Mice Lacking p35, a Neuronal Specific Activator of Cdk5, Display Cortical Lamination Defects, Seizures, and Adult Lethality

1997 • 727 citations

Scrambler and yotari disrupt the disabled gene and produce a reeler -like phenotype in mice

1997 • 637 citations

The cdk5/p35 kinase is essential for neurite outgrowth during neuronal differentiation.

1996 • 592 citations

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

1998 • 571 citations

Reelin Binds α3β1 Integrin and Inhibits Neuronal Migration

2000 • 564 citations

Regulation of Area Identity in the Mammalian Neocortex by Emx2 and Pax6

2000 • 564 citations

A LIS1/NUDEL/Cytoplasmic Dynein Heavy Chain Complex in the Developing and Adult Nervous System

2000 • 506 citations

slit: an extracellular protein necessary for development of midline glia and commissural axon pathways contains both EGF and LRR domains.

1990 • 499 citations

NUDEL Is a Novel Cdk5 Substrate that Associates with LIS1 and Cytoplasmic Dynein

2000 • 482 citations

Two vertebrate homeobox genes related to the Drosophila empty spiracles gene are expressed in the embryonic cerebral cortex.

1992 • 472 citations

Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations —

1981 • 469 citations

Diagnostic criteria for Walker‐Warburg syndrome

1989 • 446 citations

Repulsive Axon Guidance

2000 • 434 citations

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

2000 • 432 citations

Mena Is Required for Neurulation and Commissure Formation

1999 • 415 citations

The p35/Cdk5 kinase is a neuron-specific Rac effector that inhibits Pak1 activity

1998 • 403 citations

Essential Roles for the Abl and Arg Tyrosine Kinases in Neurulation

1998 • 403 citations

A Classification Scheme for Malformations of Cortical Development

1996 • 389 citations

Cables Links Cdk5 and c-Abl and Facilitates Cdk5 Tyrosine Phosphorylation, Kinase Upregulation, and Neurite Outgrowth

2000 • 378 citations

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13

1993 • 376 citations

Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain

1998 • 370 citations

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

1998 • 352 citations

NudF, a nuclear migration gene in Aspergillus nidulans, is similar to the human LIS-1 gene required for neuronal migration.

1995 • 337 citations

Mouse disabled (mDab1): a Src binding protein implicated in neuronal development

1997 • 337 citations

Tokyo campus rising

1998 • 336 citations

Differential Origins of Neocortical Projection and Local Circuit Neurons: Role of Dlx Genes in Neocortical Interneuronogenesis

1999 • 328 citations

Lissencephaly and Other Malformations of Cortical Development: 1995 Update

1995 • 323 citations

An actin-binding function contributes to transformation by the Bcr-Abl oncoprotein of Philadelphia chromosome-positive human leukemias.

1993 • 317 citations

Cyclin-Dependent Kinase 5-Deficient Mice Demonstrate Novel Developmental Arrest in Cerebral Cortex

1998 • 315 citations

Point Mutations and an Intragenic Deletion in LIS1, the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

1997 • 314 citations

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

1996 • 301 citations

Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit

1997 • 298 citations

LIS1 Regulates CNS Lamination by Interacting with mNudE, a Central Component of the Centrosome

2000 • 296 citations

DLX-1, DLX-2, and DLX-5 expression define distinct stages of basal forebrain differentiation

1999 • 292 citations

Slit2-Mediated Chemorepulsion and Collapse of Developing Forebrain Axons

1999 • 280 citations

A mouse model for Zellweger syndrome

1997 • 271 citations

Aberrant Splicing of a Mouse disabled Homolog, mdab1, in the scrambler Mouse

1997 • 263 citations

Doublecortin, a Stabilizer of Microtubules

1999 • 263 citations

CNS Gene Encoding Astrotactin, Which Supports Neuronal Migration Along Glial Fibers

1996 • 256 citations

Area identity shifts in the early cerebral cortex of Emx2−/− mutant mice

2000 • 251 citations

The Reelin Receptor ApoER2 Recruits JNK-interacting Proteins-1 and -2

2000 • 245 citations

X-linked malformations of neuronal migration

1996 • 240 citations

Drosophila abl tyrosine kinase in embryonic CNS axons: A role in axonogenesis is revealed through dosage-sensitive interactions with disabled

1989 • 240 citations

Reelin mRNA Expression During Mouse Brain Development

1997 • 226 citations

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

1999 • 224 citations

Astrotactin provides a receptor system for CNS neuronal migration

1991 • 215 citations

Magnetic resonance imaging in childhood intractable partial epilepsies

1993 • 212 citations

Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport

2000 • 208 citations

Peroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and Pathogenesis

1998 • 200 citations

Profilin and the Abl Tyrosine Kinase Are Required for Motor Axon Outgrowth in the Drosophila Embryo

1999 • 199 citations

Ligand-induced changes in integrin expression regulate neuronal adhesion and neurite outgrowth

1997 • 193 citations

Cerebellar histogenesis is disturbed in mice lacking cyclin D2

1999 • 192 citations

Astrotactin: a novel neuronal cell surface antigen that mediates neuron-astroglial interactions in cerebellar microcultures

1988 • 192 citations

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

1992 • 189 citations

Reelin Regulates the Development and Synaptogenesis of the Layer-Specific Entorhino-Hippocampal Connections

1999 • 189 citations

Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease

2001 • 184 citations

Focal Epileptogenesis in a Rat Model of Polymicrogyria

1999 • 178 citations

Brain acetylhydrolase that inactivates platelet-activating factor is a G-protein-like trimer

1997 • 175 citations

Folding of Proteins with WD-Repeats: Comparison of Six Members of the WD-Repeat Superfamily to the G Protein β Subunit

1996 • 175 citations

The Lis1-Related Nudf Protein of Aspergillus nidulans Interacts with the Coiled-Coil Domain of the Nude/Ro11 Protein

2000 • 171 citations

Syndromes of bilateral symmetrical polymicrogyria.

1999 • 169 citations

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

1998 • 167 citations

Characterization of mutations in the genedoublecortin in patients with double cortex syndrome

1999 • 166 citations

Muscle—eye—brain disease: A neuropathological study

1997 • 166 citations

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

2001 • 160 citations

Familial schizencephaly associated with EMX2 mutation

1997 • 159 citations

Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment

2000 • 159 citations

A novel disruption of cortical development inp35?/? mice distinct fromreeler

1998 • 158 citations

Bilateral parasagittal parietooccipital polymicrogyria and epilepsy

1997 • 155 citations

Periventricular heterotopia and epilepsy

1994 • 155 citations

Targeted Deletion of the PEX2 Peroxisome Assembly Gene in Mice Provides a Model for Zellweger Syndrome, a Human Neuronal Migration Disorder

1997 • 152 citations

Patient Mutations in Doublecortin Define a Repeated Tubulin-binding Domain

2000 • 148 citations

Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome-linked Kallmann syndrome

1999 • 146 citations

Slit Inhibition of Retinal Axon Growth and Its Role in Retinal Axon Pathfinding and Innervation Patterns in the Diencephalon

2000 • 146 citations

Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy.

1994 • 142 citations

A Genetic Animal Model of Human Neocortical Heterotopia Associated with Seizures

1997 • 140 citations

Abnormal reorganization of preplate neurons and their associated extracellular matrix: An early manifestation of altered neocortical development in the reeler mutant mouse

1997 • 140 citations

Lissencephaly with Cerebellar Hypoplasia (LCH): A Heterogeneous Group of Cortical Malformations

2001 • 139 citations

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping

1999 • 137 citations

The Lack ofEmx2Causes Impairment ofReelinSignaling and Defects of Neuronal Migration in the Developing Cerebral Cortex

2000 • 137 citations

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia

1999 • 130 citations

Bilateral frontal polymicrogyria

2000 • 128 citations

Neuronal Heterotopias in the Developing Cerebral Cortex Produced by Neurotrophin-4

1997 • 125 citations

Structure of the X–linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome

1992 • 116 citations

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2

1999 • 109 citations

Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner

1998 • 108 citations

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

2000 • 106 citations

Platelet-Activating Factor Receptor Stimulation Disrupts Neuronal MigrationIn Vitro

1998 • 105 citations

A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31

2000 • 103 citations

Dynamic Synapses in the Cortex

1997 • 101 citations

Microlissencephaly: A Heterogeneous Malformation of Cortical Development

1998 • 98 citations

The Fukuyama congenital muscular dystrophy story

2000 • 97 citations

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain

1997 • 96 citations

Imaging Physiologic Dysfunction of Individual Hippocampal Subregions in Humans and Genetically Modified Mice

2000 • 84 citations

Identification of a Duplication of Xq28 Associated with Bilateral Periventricular Nodular Heterotopia

1997 • 83 citations

Brain MR in Fukuyama congenital muscular dystrophy.

1996 • 78 citations

Callosal axon guidance defects in p35?/? mice

1999 • 76 citations

A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2

1997 • 75 citations

Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation

1998 • 72 citations

Deletion of nudC, a nuclear migration gene of Aspergillus nidulans, causes morphological and cell wall abnormalities and is lethal.

1997 • 65 citations

A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.

1997 • 63 citations

Bilateral perisylvian polymicrogyria in three generations

1999 • 61 citations

Neurogenetics of the Cerebellar System

1999 • 60 citations

LIS1 is a microtubule‐associated phosphoprotein

1999 • 59 citations

On the molecular etiology of decreased arachidonic (20:4n-6), docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids in Zellweger syndrome and other peroxisomal disorders.

1997 • 59 citations

Agenesis of Corpus Callosum: Clinical Description and Etiology

2000 • 57 citations

Development of Commissural Connections in the Hippocampus of Reeler Mice: Evidence of an Inhibitory Influence of Cajal–Retzius Cells

1999 • 52 citations

Familial periventricular nodular heterotopia

1993 • 50 citations

Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development

2000 • 50 citations

A Sibship with a Neuronal Migration Defect, Cerebellar Hypoplasia and Congenital Lymphedema

1993 • 47 citations

Distinct roles of profilin in cell morphological changes: microspikes, membrane ruffles, stress fibers, and cytokinesis

1999 • 46 citations

Heterotopic Neurogenesis in a Rat with Cortical Heterotopia

1998 • 44 citations

Cobblestone Lissencephaly with Normal Eyes and Muscle

1996 • 42 citations

Ocular findings in Walker-Warburg syndrome

1993 • 35 citations

Novel Missense Mutation in the L1 Gene in a Child With Corpus Callosum Agenesis, Retardation, Adducted Thumbs, Spastic Paraparesis, and Hydrocephalus

2000 • 31 citations

Developmental aspects of type II lissencephaly

1995 • 29 citations

Microcephaly with simplified gyral pattern in six related children

1999 • 28 citations

Bilateral frontoparietal polymicrogyria and epilepsy

2000 • 27 citations

Microlissencephaly

1998 • 26 citations

Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic

1995 • 26 citations

Autosomal Recessive Micrencephaly with Simplified Gyral Pattern, Abnormal Myelination and Arthrogryposis

1999 • 25 citations

Fine structure physical mapping of a 1·9 Mb region of chromosome 13q12

1997 • 24 citations

Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment

2000 • 22 citations

Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome?

1999 • 21 citations

Fukuyama congenital muscular dystrophy

2001 • 17 citations

Non-progressive familial congenital cerebellar hypoplasia

1995 • 13 citations

Spatial and temporal development of the gliovascular tissue in type II lissencephaly

1997 • 9 citations

Walker–Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy

2000 • 8 citations

X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia

1999 • 8 citations

Growth Factor Influences on the Production and Migration of Cortical Neurons

2000 • 5 citations

Fine structure physical mapping of a 1·9 Mb region of chromosome 13q12

1997 • 3 citations

[Neuropathology of peroxisomal disorders; Zellweger syndrome and neonatal adrenoleukodystrophy].

1992 • 3 citations

Developmental aspects of type II lissencephaly

1994 • 1 citations

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