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Cobblestone Lissencephaly

Known as: Lissencephalies, Cobblestone, Cobblestone Dysplasia, Dysplasia, Cobblestone 
The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of… 
National Institutes of Health

Related topics

Related topics

10 relations

Broader (1)

Agyria

Narrower (1)

Cobblestone Complex
Fukuyama Type Congenital Muscular DystrophyIn BloodMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5Microbiological
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Extracellular Matrix
Basement membranes are a critical component of the neural and vascular structures of the brain and play important roles in both… 
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Review
2012
Review
2012
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Cobblestone lissencephaly represents a peculiar brain malformation with characteristic radiological anomalies, defined as… 
Highly Cited
2012
Highly Cited
2012
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical… 
Review
2008
Review
2008
Malformations of Cortical Development
Background:Malformations of cortical development (MCD) are increasingly recognized as an important cause of epilepsy and… 
Highly Cited
2005
Highly Cited
2005
Integrin-Linked Kinase Deletion from Mouse Cortex Results in Cortical Lamination Defects Resembling Cobblestone Lissencephaly
Integrin-linked kinase (Ilk) is a scaffold and kinase that links integrin receptors to the actin cytoskeleton and to signaling… 
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Review
2003
Review
2003
Human malformations of the midbrain and hindbrain: review and proposed classification scheme.
Although a great deal of interest in the genetics and etiology of cerebral, particularly forebrain, malformations has been… 
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Highly Cited
2003
Highly Cited
2003
FAK Deficiency in Cells Contributing to the Basal Lamina Results in Cortical Abnormalities Resembling Congenital Muscular Dystrophies
Targeted deletion of focal adhesion kinase (fak) in the developing dorsal forebrain resulted in local disruptions of the cortical… 
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Review
2001
Review
2001
Neuronal migration
Like other motile cells, neurons migrate in three schematic steps, namely leading edge extension, nuclear translocation or… 
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Highly Cited
1999
Highly Cited
1999
Presenilin-1 deficiency leads to loss of Cajal–Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly
BACKGROUND Presenilin-1 (PS1) is a transmembrane protein that is located in the endoplasmic reticulum and the cis Golgi apparatus… 
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Highly Cited
1991
Highly Cited
1991
Lissencephaly-Pachygyria Associated With Congenital Cytomegalovirus Infection
We report the presence of major cerebral migrational defects in five severely, multiply handicapped children with congenital… 
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