Pontocerebellar Hypoplasia Type 6

Known as: Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects, PCH6, PONTOCEREBELLAR HYPOPLASIA, TYPE 6 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1986-2017
01219862017

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6… (More)
Is this relevant?
2016
2016
BACKGROUND Pontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
Is this relevant?
2015
2015
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset… (More)
Is this relevant?
2015
2015
Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy… (More)
  • table 1
  • figure 1
  • figure 2
  • table 2
  • figure 3
Is this relevant?
2013
2013
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder… (More)
Is this relevant?
2011
2011
Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524… (More)
  • table 1
  • table 2
  • figure 1
  • table 3
Is this relevant?
Review
2011
Review
2011
Pontocerebellar Hypoplasia (PCH) is group of very rare, inherited progressive neurodegenerative disorders with prenatal onset. Up… (More)
  • figure 1
  • table 1
  • table 2
  • table 3
  • figure 2
Is this relevant?
2010
2010
Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these… (More)
Is this relevant?
1992
1992
A child with 21-OH-def whose 9 weeks' pregnant mother was referred for prenatal diagnosis was found upon very careful… (More)
Is this relevant?
1986
1986
Two DNA probes isolated from the region 5' to the HLA-B gene are described. One of these, pCH6, detects a TaqI polymorphism which… (More)
Is this relevant?