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Pontoneocerebellar hypoplasia

Known as: Pontocerebellar hypoplasia 
National Institutes of Health

Papers overview

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2015
2015
The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of… 
2013
2013
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder… 
Highly Cited
2003
Highly Cited
2003
Objective: To describe a novel form of pontocerebellar hypoplasia (PCH) and map its genetic locus. Background: PCH is a… 
2002
2002
We present two siblings with pontocerebellar hypoplasia who have progressive microcephaly, mental and motor retardation, truncal… 
1999
1999
We report the association of pontocerebellar hypoplasia and anterior horn cell disease in three female siblings. One child… 
1997
1997
We present two clinically diagnosed cases of pontocerebellar hypoplasia with microcephaly and dyskinesia (pontocerebellar… 
1996
1996
Abstract We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy…