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Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.

作者信息

Muglia Maria, Magariello Angela, Nicoletti Giuseppe, Patitucci Alessandra, Gabriele Anna Lia, Conforti Francesca Luisa, Mazzei Rosalucia, Caracciolo Manuela, Ardito Bonaventura, Lastilla Marcello, Tedeschi Gioacchino, Quattrone Aldo

出版信息

Ann Neurol. 2002 Jun;51(6):794-5. doi: 10.1002/ana.10185.

DOI:10.1002/ana.10185
PMID:12112092
Abstract
摘要

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1
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.SPG3A基因突变导致常染色体显性遗传性痉挛性截瘫的进一步证据。
Ann Neurol. 2002 Jun;51(6):794-5. doi: 10.1002/ana.10185.
2
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.一个来自意大利南部的大家族,患有纯合常染色体显性遗传性痉挛性截瘫,其致病基因定位于14号染色体14q11.2-q24.3区域。
J Neurol. 2002 Oct;249(10):1413-6. doi: 10.1007/s00415-002-0856-4.
3
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.常染色体显性遗传性痉挛性截瘫家系中Atlastin基因(SPG3A)的新突变以及与SPG3A基因座相关的迟发性遗传性痉挛性截瘫的证据。
Hum Mutat. 2004 Jan;23(1):98. doi: 10.1002/humu.9205.
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Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.Atlastin1突变在早发型常染色体显性遗传性痉挛性截瘫中很常见。
Arch Neurol. 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867.
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Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.一种新的SPG3A新发突变导致的遗传性痉挛性截瘫和轴索性运动神经病
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Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.与轴索性神经病相关的遗传性痉挛性截瘫:一个大家族中的SPG3A新突变
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Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.一个非裔美国家庭中SPG3A基因的新型突变与早发性遗传性痉挛性截瘫相关
Arch Neurol. 2004 Oct;61(10):1600-3. doi: 10.1001/archneur.61.10.1600.
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A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.一个中国汉族家系中具有遗传性痉挛性截瘫新足部表型的SPG3A突变
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SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.SPG3A是10岁前发病的遗传性痉挛性截瘫最常见的病因。
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Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.一个新发现的GTP酶基因突变会导致常染色体显性遗传性痉挛性截瘫。
Nat Genet. 2001 Nov;29(3):326-31. doi: 10.1038/ng758.

引用本文的文献

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Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling.通过转录组谱分析解码遗传性痉挛性截瘫的发病机制。
Zool Res. 2023 May 18;44(3):650-662. doi: 10.24272/j.issn.2095-8137.2022.281.
2
Extensive Analysis of Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A.基因的广泛分析:发现了五个可能导致3A型遗传性痉挛性截瘫的突变。
Scientifica (Cairo). 2020 Apr 19;2020:8329286. doi: 10.1155/2020/8329286. eCollection 2020.
3
Clinical features and genotype-phenotype correlation analysis in patients with mutations: A literature reanalysis.
突变患者的临床特征及基因型-表型相关性分析:一项文献再分析
Transl Neurodegener. 2017 Apr 4;6:9. doi: 10.1186/s40035-017-0079-3. eCollection 2017.
4
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.痉挛性截瘫相关基因 spastin、atlastin 和 REEP1 的突变筛查。
Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501.x.
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Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.SPG3A型遗传性痉挛性截瘫中正常的多巴胺能黑质纹状体神经支配。
J Neurogenet. 2008;22(4):289-94. doi: 10.1080/01677060802337307.
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Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.Atlastin GTP酶是高尔基体和内质网形态发生所必需的。
Hum Mol Genet. 2008 Jun 1;17(11):1591-604. doi: 10.1093/hmg/ddn046. Epub 2008 Feb 12.
7
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.痉挛素和发动蛋白,这两种在常染色体显性遗传性痉挛性截瘫中发生突变的蛋白质,是结合伴侣。
Hum Mol Genet. 2006 Jan 15;15(2):307-18. doi: 10.1093/hmg/ddi447. Epub 2005 Dec 8.
8
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.SPG3A 中的 R495W 突变导致与轴索性神经病变相关的痉挛性截瘫。
J Neurol. 2005 Aug;252(8):901-3. doi: 10.1007/s00415-005-0768-1. Epub 2005 Mar 8.
9
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.由SPG3A基因新突变引起的早发型常染色体显性遗传性痉挛性截瘫
Neurogenetics. 2004 Dec;5(4):239-43. doi: 10.1007/s10048-004-0191-2. Epub 2004 Oct 28.
10
Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.动态科学:遗传性痉挛性截瘫中出现常见分子病理主题。
J Med Genet. 2003 Feb;40(2):81-6. doi: 10.1136/jmg.40.2.81.