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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.
2018
2018
Spinal cord involvement in Leigh syndrome
2018
2018
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations
Human mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are key enzymes in the mitochondrial protein translation system and… 
2015
2015
Taylor RW. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel…
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset… 
2013
2013
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder… 
2011
2011
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion
Cerebellar and brainstem hypoplasia may occur in different conditions, including those disorders designated as pontocerebellar… 
2008
2008
The role of the Kar2p/BiP chaperone in ER quality control
The unfolded protein response (UPR) is an interorganellar signal transduction pathway that monitors endoplasmic reticulum (ER… 
2000
2000
[Isolation and characterization of promoters from Phanerochaete chrysosporium].
  • W. LiY. Z. Zhang
  • Sheng wu gong cheng xue bao = Chinese journal of…
  • 2000
  • Corpus ID: 3034626
Promoter-probe vector pSUPV8 was used to clone promoters from Phanerochaete chrysosporium directly in Escherichia coli. Six… 
1986
1986
Use of DNA probes from the 5' flanking region of the HLA-B gene to examine polymorphism at the HLA-B locus.
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