• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.

作者信息

Lee M-J, Cheng T-W, Hua M-S, Pan M-K, Wang J, Stephenson D A, Yang C-C

出版信息

J Neurol Neurosurg Psychiatry. 2008 May;79(5):607-9. doi: 10.1136/jnnp.2007.136390.

DOI:10.1136/jnnp.2007.136390
PMID:18408091
Abstract
摘要

相似文献

1
Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.常染色体隐性遗传性痉挛性截瘫伴胼胝体变薄患者的SPG11基因突变
J Neurol Neurosurg Psychiatry. 2008 May;79(5):607-9. doi: 10.1136/jnnp.2007.136390.
2
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).痉挛步态基因11（SPG11）相关伴薄胼胝体的遗传性痉挛性截瘫的临床进展与基因分析
Arch Neurol. 2004 Jan;61(1):117-21. doi: 10.1001/archneur.61.1.117.
3
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.沙特人群中伴有胼胝体变薄的常染色体隐性遗传性痉挛性截瘫
Neurosciences (Riyadh). 2012 Jan;17(1):48-52.
4
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.伴有胼胝体变薄的遗传性痉挛性截瘫：SPG11区间的缩小及进一步遗传异质性的证据
Arch Neurol. 2006 May;63(5):756-60. doi: 10.1001/archneur.63.5.756.
5
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.扩大伴有胼胝体变薄的隐性遗传性痉挛性截瘫中SPG11基因突变的临床谱。
Eur J Med Genet. 2011 Jan-Feb;54(1):82-5. doi: 10.1016/j.ejmg.2010.10.006. Epub 2010 Nov 12.
6
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.SPG11基因的突变在伴有胼胝体变薄、认知功能减退和下运动神经元变性的常染色体隐性遗传性痉挛性截瘫中很常见。
Brain. 2008 Mar;131(Pt 3):772-84. doi: 10.1093/brain/awm293. Epub 2007 Dec 13.
7
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.SPG11的进一步临床和遗传学特征：伴有胼胝体变薄的遗传性痉挛性截瘫
Neuropediatrics. 2006 Apr;37(2):59-66. doi: 10.1055/s-2006-923982.
8
SPG11 compound mutations in spastic paraparesis with thin corpus callosum.伴有胼胝体变薄的痉挛性截瘫中的SPG11复合突变。
Neurology. 2008 Jul 29;71(5):332-6. doi: 10.1212/01.wnl.0000319646.23052.d1.
9
SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.SPG11基因突变导致凯林综合征，这是一种伴有胼胝体变薄和视网膜中央变性的遗传性痉挛性截瘫。
Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):984-92. doi: 10.1002/ajmg.b.30928.
10
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.编码spatacsin的SPG11基因突变是导致伴有薄胼胝体的痉挛性截瘫的主要原因。
Nat Genet. 2007 Mar;39(3):366-72. doi: 10.1038/ng1980. Epub 2007 Feb 18.

引用本文的文献

1
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.描述一些 SPG11 突变患者的 ARHSP/JALS 表型合并现象。
Mol Genet Genomic Med. 2020 Jul;8(7):e1240. doi: 10.1002/mgg3.1240. Epub 2020 May 8.
2
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.遗传性痉挛性截瘫的基因型-表型关联：对 13570 名患者的系统回顾和荟萃分析。
J Neurol. 2021 Jun;268(6):2065-2082. doi: 10.1007/s00415-019-09633-1. Epub 2019 Nov 19.
3
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
下一代测序对儿童起病遗传性痉挛性截瘫诊断的影响：罕见 HSP 相关基因的新基因型-表型相关性。
Neurogenetics. 2018 May;19(2):111-121. doi: 10.1007/s10048-018-0545-9. Epub 2018 Apr 24.
4
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.ALS5/SPG11/KIAA1840基因突变导致常染色体隐性遗传性轴索性夏科-马里-图斯病。
Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.
5
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.常染色体隐性遗传性痉挛性截瘫——一个明确队列的临床和遗传特征
Neurogenetics. 2013 Nov;14(3-4):181-8. doi: 10.1007/s10048-013-0366-9. Epub 2013 Jun 4.
6
Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation.遗传性痉挛性截瘫伴 SPG11 突变患者脑纤维束的微观结构完整性。
AJNR Am J Neuroradiol. 2013 May;34(5):990-6, S1. doi: 10.3174/ajnr.A3330. Epub 2012 Dec 6.
7
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.SPATACSIN 突变导致常染色体隐性遗传青少年型肌萎缩侧索硬化症。
Brain. 2010 Feb;133(Pt 2):591-8. doi: 10.1093/brain/awp325. Epub 2010 Jan 28.
8
SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.SPG11型痉挛性截瘫。青少年帕金森病的一个新病因。
J Neurol. 2009 Jan;256(1):104-8. doi: 10.1007/s00415-009-0083-3. Epub 2009 Feb 9.
9
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.
Neurogenetics. 2009 Feb;10(1):43-8. doi: 10.1007/s10048-008-0144-2. Epub 2008 Sep 12.