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。 - Suppr

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

相似文献

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

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

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3.

J Neurol. 2002 Oct;249(10):1413-6. doi: 10.1007/s00415-002-0856-4.

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.

Hum Mutat. 2004 Jan;23(1):98. doi: 10.1002/humu.9205.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Arch Neurol. 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867.

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.

Brain Dev. 2010 Aug;32(7):592-4. doi: 10.1016/j.braindev.2009.08.003. Epub 2009 Sep 6.

Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of SPG3A in a large family.

J Clin Neuromuscul Dis. 2011 Mar;12(3):143-6. doi: 10.1097/CND.0b013e318209efc6.

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.

Arch Neurol. 2004 Oct;61(10):1600-3. doi: 10.1001/archneur.61.10.1600.

A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.

Chin Med J (Engl). 2007 May 5;120(9):834-7.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e.

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

Nat Genet. 2001 Nov;29(3):326-31. doi: 10.1038/ng758.

引用本文的文献

Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling.

Zool Res. 2023 May 18;44(3):650-662. doi: 10.24272/j.issn.2095-8137.2022.281.

Extensive Analysis of Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A.

Scientifica (Cairo). 2020 Apr 19;2020:8329286. doi: 10.1155/2020/8329286. eCollection 2020.

Clinical features and genotype-phenotype correlation analysis in patients with mutations: A literature reanalysis.

Transl Neurodegener. 2017 Apr 4;6:9. doi: 10.1186/s40035-017-0079-3. eCollection 2017.

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.

Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501.x.

Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.

J Neurogenet. 2008;22(4):289-94. doi: 10.1080/01677060802337307.

Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.

Hum Mol Genet. 2008 Jun 1;17(11):1591-604. doi: 10.1093/hmg/ddn046. Epub 2008 Feb 12.

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

Hum Mol Genet. 2006 Jan 15;15(2):307-18. doi: 10.1093/hmg/ddi447. Epub 2005 Dec 8.

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

J Neurol. 2005 Aug;252(8):901-3. doi: 10.1007/s00415-005-0768-1. Epub 2005 Mar 8.

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

Neurogenetics. 2004 Dec;5(4):239-43. doi: 10.1007/s10048-004-0191-2. Epub 2004 Oct 28.

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.

J Med Genet. 2003 Feb;40(2):81-6. doi: 10.1136/jmg.40.2.81.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

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

作者信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献