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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.
2017
2017
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
T. van Dijk
,
F. van Ruissen
,
+6 authors
B. Poll-The
JIMD reports
2017
Corpus ID: 9213341
Mutations in the mitochondrial arginyl tRNA synthetase (RARS2) gene are associated with Pontocerebellar Hypoplasia type 6 (PCH6…
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2016
2016
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
S. Lühl
,
H. Bode
,
+6 authors
S. Grünert
Orphanet Journal of Rare Diseases
2016
Corpus ID: 18409344
BackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2…
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2016
2016
RARS2 mutations in a sibship with infantile spasms
A. Ngoh
,
J. Bras
,
+11 authors
M. Kurian
Epilepsia
2016
Corpus ID: 518734
Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the…
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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…
N. Lax
,
C. Alston
,
+12 authors
R. Taylor
Journal of neuropathology and experimental…
2015
Corpus ID: 17991951
Abstract Autosomal recessive mutations in the RARS2 gene encoding the mitochondrial arginyl-transfer RNA synthetase cause…
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2015
2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
Z. Li
,
Rhonda Schonberg
,
+9 authors
D. Gaudio
Journal of Human Genetics
2015
Corpus ID: 13269778
Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy…
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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
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
E. Glamuzina
,
R. Brown
,
+7 authors
S. Grunewald
Journal of Inherited Metabolic Disease
2011
Corpus ID: 23635467
Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524…
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2011
2011
Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
Paul R Kasher
,
Y. Namavar
,
+6 authors
F. Baas
Human molecular genetics
2011
Corpus ID: 14831740
Pontocerebellar hypoplasia (PCH) represents a group (PCH1-6) of neurodegenerative autosomal recessive disorders characterized by…
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Highly Cited
2010
Highly Cited
2010
Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features
J. Rankin
,
R. Brown
,
+4 authors
Garry Brown
American journal of medical genetics. Part A
2010
Corpus ID: 41693882
Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these…
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Highly Cited
2009
Highly Cited
2009
Identification of Three Classes of Heteroaromatic Compounds with Activity against Intracellular Trypanosoma cruzi by Chemical Library Screening
E. Bettiol
,
M. Samanovic
,
A. S. Murkin
,
J. Raper
,
F. Buckner
,
A. Rodriguez
PLoS neglected tropical diseases
2009
Corpus ID: 8673998
The development of new drugs against Chagas disease is a priority since the currently available medicines have toxic effects…
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