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Pontocerebellar Hypoplasia Type 6

Known as: ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS, PCH6, PONTOCEREBELLAR HYPOPLASIA, TYPE 6 
National Institutes of Health

Papers overview

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2017
2017
Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6… 
2016
2016
Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the… 
2016
2016
BackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2… 
2015
2015
Abstract Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause… 
2015
2015
Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy… 
Review
2011
Review
2011
Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up… 
Highly Cited
2011
Highly Cited
2011
Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524… 
2011
2011
Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by… 
Highly Cited
2010
Highly Cited
2010
Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these… 
Highly Cited
2009
Highly Cited
2009
The development of new drugs against Chagas disease is a priority since the currently available medicines have toxic effects…