TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
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 hypoplasiaMutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationPontocerebellar hypoplasia.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsEXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsGenetic axonal neuropathies and neuronopathies of pre-natal and infantile onset.Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl.Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
P2860
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P2860
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
@en
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
@nl
type
label
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
@en
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
@nl
prefLabel
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
@en
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
@nl
P2093
P2860
P1476
TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
@en
P2093
Alessandro Simonati
Denise Cassandrini
Diana Bazan
Filippo Maria Santorelli
P2860
P2888
P304
P356
10.1007/S00401-011-0823-1
P577
2011-04-06T00:00:00Z
P5875
P6179
1029041551