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Pontocerebellar Hypoplasia Type 1

Known as: Pontocerebellar Hypoplasia, Type 1a, Pontocerebellar Hypoplasia With Anterior Horn Cell Disease, PCH1A 
 
National Institutes of Health

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Highly Cited
2014
Highly Cited
2014
BackgroundPontocerebellar hypoplasia (PCH) represents a group of neurodegenerative disorders with prenatal onset. Eight subtypes… Expand
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Highly Cited
2013
Highly Cited
2013
Objectives: Pontocerebellar hypoplasia with spinal muscular atrophy, also known as PCH1, is a group of autosomal recessive… Expand
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Highly Cited
2012
Highly Cited
2012
RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for… Expand
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Highly Cited
2012
Highly Cited
2012
Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset… Expand
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Highly Cited
2012
Highly Cited
2012
BackgroundPontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early… Expand
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2011
2011
Pontocerebellar hypoplasia (PCH) is a group of autosomal recessive neurodegenerative disorders characterized by prenatal onset of… Expand
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Highly Cited
2008
Highly Cited
2008
Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset… Expand
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Is this relevant?
Highly Cited
2003
Highly Cited
2003
RNA polymerase II (pol II) is subject to an early elongation delay induced by negative factors Spt5/Spt4 and NELF, which is… Expand
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Highly Cited
2000
Highly Cited
2000
During the meiotic cell cycle, a surveillance mechanism called the "pachytene checkpoint" ensures proper chromosome segregation… Expand
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Highly Cited
1984
Highly Cited
1984
Under optimal conditions, the cyanobacterium Anacystis nidulans R2 was transformed to ampicillin resistance at frequencies of… Expand
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