Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
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Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological DiseasesMutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Structure and reconstitution of yeast Mpp6-nuclear exosome complexes reveals that Mpp6 stimulates RNA decay and recruits the Mtr4 helicase.The RNA exosome and RNA exosome-linked disease.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.Helicase-Dependent RNA Decay Illuminated by a Cryo-EM Structure of a Human Nuclear RNA Exosome-MTR4 Complex
P2860
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P2860
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年學術文章
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2014年學術文章
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name
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
@en
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
@nl
type
label
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
@en
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
@nl
prefLabel
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
@en
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
@nl
P2093
P2860
P1433
P1476
Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia.
@en
P2093
Alexander Lossos
Avinoam Shuper
Ayelet Halevy
Bat-El Zimerman
Isam Korabi
Israela Lerer
Liora Kornreich
Moria Gamliel
Rachel Straussberg
Rony Cohen
P2860
P2888
P304
P356
10.1007/S00415-014-7457-X
P577
2014-08-23T00:00:00Z
P5875
P6179
1007815413