A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
about
The active form of E6-associated protein (E6AP)/UBE3A ubiquitin ligase is an oligomer.Barcoding heat shock proteins to human diseases: looking beyond the heat shock responseAngelman syndrome: review of clinical and molecular aspects.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.
P2860
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
@wuu
2013年学术文章
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2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
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2013年学术文章
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2013年學術文章
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2013年學術文章
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name
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
@en
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
@nl
type
label
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
@en
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
@nl
prefLabel
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
@en
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
@nl
P2093
P2860
P50
P356
P1476
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy.
@en
P2093
E Gregianin
E Pegoraro
E Scaramel
F Boaretto
M L Mostacciuolo
S C E Tosatto
P2860
P304
P356
10.1111/ENE.12220
P577
2013-06-25T00:00:00Z