Hereditary spastic paraplegia caused by mutations in the SPG4 gene
about
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.Hereditary spastic paraplegia SPG4: what is known and not known about the disease.Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaA Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severityUnique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangementsTranscriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasPathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.Endocytic membrane trafficking and neurodegenerative disease.Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegiaFirst mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.Botulinum toxin injections for pediatric patients with hereditary spastic paraparesis.Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Functional differences of short and long isoforms of spastin harboring missense mutation
P2860
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P2860
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
description
2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
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2000年論文
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2000年论文
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name
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@ast
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@en
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@nl
type
label
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@ast
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@en
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@nl
prefLabel
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@ast
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@en
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@nl
P2093
P356
P1476
Hereditary spastic paraplegia caused by mutations in the SPG4 gene
@en
P2093
P2888
P356
10.1038/SJ.EJHG.5200528
P407
P577
2000-10-01T00:00:00Z