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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

Related topics

Related topics

8 relations
ApneaAtrophy/Degeneration affecting the brainstemAutosomal recessive inheritanceCerebellar atrophy

Broader (1)

Olivopontocerebellar Atrophies

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6… 
2016
2016
RARS2 mutations in a sibship with infantile spasms
Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the… 
2016
2016
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
BackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2… 
2015
2015
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2…
Abstract Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause… 
2015
2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy… 
Review
2011
Review
2011
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up… 
Highly Cited
2011
Highly Cited
2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524… 
2011
2011
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by… 
Highly Cited
2010
Highly Cited
2010
Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features
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
Identification of Three Classes of Heteroaromatic Compounds with Activity against Intracellular Trypanosoma cruzi by Chemical Library Screening
The development of new drugs against Chagas disease is a priority since the currently available medicines have toxic effects… 
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