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… (More)
National Institutes of Health

Papers overview

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2016
2016
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the… (More)
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2014
2014
Tubulins, and microtubule polymers into which they incorporate, play critical mechanical roles in neuronal function during cell… (More)
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2013
2013
The brain of a 5-year-old boy with Schinzel-Giedion syndrome displayed a cobblestone appearance of orbital and lateral aspects of… (More)
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Highly Cited
2005
Highly Cited
2005
Integrin-linked kinase (Ilk) is a scaffold and kinase that links integrin receptors to the actin cytoskeleton and to signaling… (More)
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Highly Cited
2004
Highly Cited
2004
The Alzheimer's disease beta-amyloid precursor protein (APP) is a member of a larger gene family that includes the amyloid… (More)
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Highly Cited
2003
Highly Cited
2003
Targeted deletion of focal adhesion kinase (fak) in the developing dorsal forebrain resulted in local disruptions of the cortical… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND Presenilin-1 (PS1) is a transmembrane protein that is located in the endoplasmic reticulum and the cis Golgi apparatus… (More)
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1996
1996
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD… (More)
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1996
1996
We report on two sisters of first degree cousin parents who were born with severe hypotonia, arthrogryposis multiplex congenita… (More)
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1991
1991
We report the presence of major cerebral migrational defects in five severely, multiply handicapped children with congenital… (More)
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