EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
about
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsEXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.Pontocerebellar hypoplasia.Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological DiseasesEXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlationsCLP1 as a novel player in linking tRNA splicing to neurodegenerative disorders.Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.The RNA exosome and RNA exosome-linked disease.Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
P2860
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P2860
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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name
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
@en
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
@nl
type
label
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
@en
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
@nl
prefLabel
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
@en
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
@nl
P2093
P2860
P1433
P1476
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
@en
P2093
Andrea Rossi
Carlo Minetti
Chiara Panicucci
Denise Cassandrini
Federico Zara
Filippo Maria Santorelli
Francesca Pinto
Holger Trucks
Maja Di Rocco
Marina Pedemonte
P2860
P2888
P304
P356
10.1007/S00415-013-6896-0
P577
2013-04-07T00:00:00Z