Pontoneocerebellar hypoplasia

Known as: Pontocerebellar hypoplasia 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1977-2017
051019772017

Papers overview

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2012
2012
RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for… (More)
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2012
2012
Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset… (More)
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Highly Cited
2011
Highly Cited
2011
Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common… (More)
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2010
2010
BACKGROUND Mutations in genes encoding subunits of the tRNA-splicing endonuclease (TSEN) complex were identified in patients with… (More)
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2009
Highly Cited
2009
The spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of disorders characterized by… (More)
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2008
Highly Cited
2008
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset… (More)
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2007
Highly Cited
2007
Homozygosity mapping was performed in a consanguineous Sephardic Jewish family with three patients who presented with severe… (More)
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1999
1999
Children with merosin-deficient congenital muscular dystrophy (CMD) have striking white matter changes on T-2 weighted brain… (More)
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1995
1995
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and… (More)
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1994
1994
We report a neonate who presented with marked hypotonia and absent suck reflex. MR demonstrated complete absence of the pons as… (More)
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