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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
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Related topics
Related topics
8 relations
Apnea
Atrophy/Degeneration affecting the brainstem
Autosomal recessive inheritance
Cerebellar atrophy
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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
J. Finsterer
Brain & development (Tokyo. )
2018
Corpus ID: 13693199
2018
2018
Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations
Ligia Elena González-Serrano
,
Loukmane Karim
,
+4 authors
M. Sissler
Journal of Biological Chemistry
2018
Corpus ID: 51623933
Human mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are key enzymes in the mitochondrial protein translation system and…
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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…
N. Lax
,
C. Alston
,
+12 authors
Robert W. Taylor
2015
Corpus ID: 55987001
Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause infantile-onset…
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2013
2013
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations
Katherina Kastrissianakis
,
G. Anand
,
+5 authors
T. McShane
Archives of Disease in Childhood
2013
Corpus ID: 21201361
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder…
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2011
2011
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion
R. Biancheri
,
C. Bruno
,
D. Cassandrini
,
E. Bertini
,
F. Santorelli
,
A. Rossi
Journal of Inherited Metabolic Disease
2011
Corpus ID: 13017999
Cerebellar and brainstem hypoplasia may occur in different conditions, including those disorders designated as pontocerebellar…
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2008
2008
The role of the Kar2p/BiP chaperone in ER quality control
Chia-Ling Hsu
2008
Corpus ID: 74655940
The unfolded protein response (UPR) is an interorganellar signal transduction pathway that monitors endoplasmic reticulum (ER…
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2000
2000
[Isolation and characterization of promoters from Phanerochaete chrysosporium].
W. Li
,
Y. 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…
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1986
1986
Use of DNA probes from the 5' flanking region of the HLA-B gene to examine polymorphism at the HLA-B locus.
K. Steere
,
B. Sidwell
,
R. Leach
,
F. Ward
,
J. Taurog
,
H. Orr
Human Immunology
1986
Corpus ID: 41147960
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