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

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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

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2016
2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
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
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Tubulins, and microtubule polymers into which they incorporate, play critical mechanical roles in neuronal function during cell… (More)
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2013
2013
Cobblestone lissencephaly in Schinzel-Giedion syndrome.
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 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… (More)
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Highly Cited
2004
Highly Cited
2004
O4-04-07 Cortical dysplasia resembling human type 2 lissencephaly in mice lacking all three APP-family members
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
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… (More)
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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… (More)
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1996
1996
Cobblestone lissencephaly with normal eyes and muscle.
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD… (More)
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1996
1996
Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?
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
Lissencephaly-pachygyria associated with congenital cytomegalovirus infection.
We report the presence of major cerebral migrational defects in five severely, multiply handicapped children with congenital… (More)
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