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Pontocerebellar Hypoplasia Type 2

Known as: PCH2 
A rare brain developmental disorder caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. The pons and cerebellum are the brain… 
National Institutes of Health

Related topics

Related topics

4 relations
Central Nervous SystemNervous system structure

Broader (1)

Olivopontocerebellar Atrophies

Narrower (1)

Pontocerebellar Hypoplasia Type 2A

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family
Homozygous loss‐of‐function mutations in TSEN54 (tRNA splicing endonuclease subunit 54; OMIM: 608755) cause different types of… 
2018
2018
The Reactivity of Mercapto Groups against Boron Hydrides in Pincer Ligated Nickel Mercapto Complexes.
Several pincer ligated nickel mercapto complexes, [2,6-(R2 PCH2 )2 C6 H3 ]NiSH (R=tBu, 1 a; iPr, 1 b), [2,6-(R2 PO)2 C6 H3 ]NiSH… 
2015
2015
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of… 
2014
2014
Resistance to Oculimacula yallundae and Oculimacula acuformis is conferred by Pch2 in wheat
The recent report of a differential response of wheat lines containing the Pch2 gene to infection with the eyespot pathogens… 
2012
2012
Principal Components of Heritability From Neurocognitive Domains Differ Between Families With Schizophrenia and Control Subjects
Objective: Various measures of neurocognitive function show mean differences among individuals with schizophrenia (SZ), their… 
2001
2001
Near-total absence of the cerebellum.
We report five cases of near-total absence of the cerebellum with accompanying pontine hypoplasia. The cerebellar remnant in each… 
Highly Cited
1999
Highly Cited
1999
Solvothermal Synthesis of the Canted Antiferromagnet {K2 [CoO3 PCH2 N(CH2 CO2 )2 ]}6 ⋅x H2 O.
A rare example of a molecular species prepared by solvothermal synthesis is the macrocyclic cobalt phosphonate/carboxylate 1… 
Highly Cited
1999
Highly Cited
1999
A New Class of Ruthenium Carbene Complexes: Synthesis and Structures of Highly Efficient Catalysts for Olefin Metathesis.
Cationic RuII carbene complexes with tBu2 PCH2 PtBu2 (dtbpm) as a chelating ligand, which are accessible by chloride abstraction… 
1997
1997
Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases
We present two clinically diagnosed cases of pontocerebellar hypoplasia with microcephaly and dyskinesia (pontocerebellar… 
1996
1996
Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations
Abstract We report three patients with severe pontocerebellar atrophy (PCA) associated with a variable degree of cerebral atrophy… 
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