Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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… Expand
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
Expand

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… Expand
  • figure 5
  • table 2
  • table 2
  • table 2
  • table 3
Is this relevant?
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… Expand
Is this relevant?
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2004
Highly Cited
2004
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG
Walker–Warburg syndrome (WWS) is a congenital muscular dystrophy associated with neuronal migration disorder and structural eye… Expand
  • figure 1
  • figure 3
  • figure 2
Is this relevant?
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Review
2001
Review
2001
Neuronal migration
Like other motile cells, neurons migrate in three schematic steps, namely leading edge extension, nuclear translocation or… Expand
  • figure 1
  • figure 2
  • table 1
Is this relevant?
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
1996
1996
Cobblestone lissencephaly with normal eyes and muscle.
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD… Expand
Is this relevant?
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… Expand
  • figure 1
  • table 1
  • table 2
  • figure 3
  • figure 2
Is this relevant?
Review
1985
Review
1985
Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.
Lissencephaly (smooth brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth… Expand
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE