TSEN54 mutations cause pontocerebellar hypoplasia type 5
about
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patientClassification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaPontocerebellar hypoplasia.Update on neuroimaging phenotypes of mid-hindbrain malformations.RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.CLP1 as a novel player in linking tRNA splicing to neurodegenerative disorders.Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.
P2860
Q21202859-24969C63-D08C-4A6A-B9F6-4981E218AB29Q21202866-AFD3255E-8620-4DAC-8C02-B643C879655FQ30830818-8386191C-2BCE-48D9-9C00-D3DC771EC022Q30863712-4E914552-B6FE-4760-9FB5-DF75ADBCF029Q33627560-77C6CB1B-D045-451E-973E-000429BB6B17Q34478269-49A8DA87-A6CC-46E1-9AE9-65AF54D7FE05Q38091854-00017CAB-E114-4540-ACF1-B4F6AC3D85AFQ38241769-BDCC908F-D18C-468E-86BE-D378D0E11D74Q38617096-A109E06E-0D41-4136-B339-0EAA8F10E3CCQ38736826-93A63D76-7F4B-49F4-9131-259C6445EAE9Q40979002-AEF2A975-4198-4781-8315-EE04E021A243Q41932793-AA01AAD6-3334-4E96-B857-BAE51836CCBDQ41934675-F0B7B8C6-C1B2-47A3-BFD0-3DDC9C19B3E6Q46818543-8E3E568C-19CE-4057-8868-19ADA505B7E2Q55441218-21BC3FD7-ADF1-40F1-8B29-68567CB288E0
P2860
TSEN54 mutations cause pontocerebellar hypoplasia type 5
description
2011 nî lūn-bûn
@nan
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
TSEN54 mutations cause pontocerebellar hypoplasia type 5
@ast
TSEN54 mutations cause pontocerebellar hypoplasia type 5
@en
type
label
TSEN54 mutations cause pontocerebellar hypoplasia type 5
@ast
TSEN54 mutations cause pontocerebellar hypoplasia type 5
@en
prefLabel
TSEN54 mutations cause pontocerebellar hypoplasia type 5
@ast
TSEN54 mutations cause pontocerebellar hypoplasia type 5
@en
P2093
P2860
P356
P1476
TSEN54 mutations cause pontocerebellar hypoplasia type 5
@en
P2093
Bwee Tien Poll-The
David Chitayat
Fred van Ruissen
Marit B de Wissel
Peter G Barth
Rachel Silver
Yasmin Namavar
P2860
P2888
P304
P356
10.1038/EJHG.2011.8
P577
2011-02-02T00:00:00Z