Cerebellar Hypoplasia

Known as: Hypoplastic cerebellum, cerebellum hypoplasia, Small cerebellum 
Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1942-2017
020406019422016

Papers overview

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Highly Cited
2010
Highly Cited
2010
The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the… (More)
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Highly Cited
2008
Highly Cited
2008
CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes… (More)
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Highly Cited
2008
Highly Cited
2008
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset… (More)
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Highly Cited
2007
Highly Cited
2007
Although human congenital cerebellar malformations are common, their molecular and developmental basis is still poorly understood… (More)
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Highly Cited
2005
Highly Cited
2005
An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar… (More)
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2005
2005
BACKGROUND Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have… (More)
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Highly Cited
2001
Highly Cited
2001
BACKGROUND Although limited environmental exploration in autism is an obvious behavioral feature and may be a manifestation of… (More)
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Highly Cited
2000
Highly Cited
2000
Normal development of the cerebral cortex requires long-range migration of cortical neurons from proliferative regions deep in… (More)
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1980
1980
Seven children had congenitally small cerebella. Perinatal asphyxia was not a factor. Clinical signs in infancy were generalized… (More)
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1961
1961
The case of an infant with Werding-Hoffmann disease, who died at the age of 4 1/2 days, is reported. At autopsy there was severe… (More)
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