• 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

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.

作者信息

Crosiers David, Ceulemans Berten, Meeus Bram, Nuytemans Karen, Pals Philippe, Van Broeckhoven Christine, Cras Patrick, Theuns Jessie

出版信息

Parkinsonism Relat Disord. 2011 Feb;17(2):135-8. doi: 10.1016/j.parkreldis.2010.10.011. Epub 2010 Nov 20.

DOI:10.1016/j.parkreldis.2010.10.011
PMID:21094623
Abstract
摘要

相似文献

1
Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation.由新型ATP13A2移码突变引起的青少年肌张力障碍-帕金森综合征和痴呆症。
Parkinsonism Relat Disord. 2011 Feb;17(2):135-8. doi: 10.1016/j.parkreldis.2010.10.011. Epub 2010 Nov 20.
2
Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation.由新型p.S941Tfs1X ATP13A2（PARK9）突变引起的青少年肌张力障碍-帕金森综合征。
Parkinsonism Relat Disord. 2015 Nov;21(11):1378-80. doi: 10.1016/j.parkreldis.2015.09.036. Epub 2015 Sep 25.
3
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.与杂合框移突变 ATP13A2 基因相关的青少年帕金森病。
Eur J Paediatr Neurol. 2011 May;15(3):271-5. doi: 10.1016/j.ejpn.2011.01.001. Epub 2011 Feb 12.
4
ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.导致罕见形式青少年型帕金森病的ATP13A2新突变。
Brain Dev. 2018 Oct;40(9):824-826. doi: 10.1016/j.braindev.2018.05.017. Epub 2018 Jun 11.
5
From PARK9 to SPG78: The clinical spectrum of ATP13A2 mutations.从PARK9到SPG78：ATP13A2突变的临床谱
Parkinsonism Relat Disord. 2019 Aug;65:272-273. doi: 10.1016/j.parkreldis.2019.05.025. Epub 2019 May 23.
6
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.由一种新型纯合ATP13A2突变引起的共济失调-肌阵挛综合征。
Parkinsonism Relat Disord. 2020 Jul;76:42-43. doi: 10.1016/j.parkreldis.2020.06.001. Epub 2020 Jun 7.
7
Lenalidomide induced reversible parkinsonism, dystonia, and dementia in subclinical Creutzfeldt-Jakob disease.来那度胺在亚临床克雅氏病中诱发可逆性帕金森症、肌张力障碍和痴呆。
J Neurol Sci. 2018 Oct 15;393:140-141. doi: 10.1016/j.jns.2018.08.027. Epub 2018 Aug 28.
8
Complicated recessive dystonia parkinsonism syndromes.复杂隐性肌张力障碍帕金森综合征
Mov Disord. 2009 Mar 15;24(4):490-9. doi: 10.1002/mds.22314.
9
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.伴有痴呆的遗传性帕金森病由编码溶酶体5型P型ATP酶的ATP13A2基因突变引起。
Nat Genet. 2006 Oct;38(10):1184-91. doi: 10.1038/ng1884. Epub 2006 Sep 10.
10
ATP13A2-related juvenile-onset Parkinson disease.与ATP13A2相关的青少年型帕金森病。
Brain Dev. 2019 Feb;41(2):223. doi: 10.1016/j.braindev.2018.08.002. Epub 2018 Aug 23.

引用本文的文献

1
Case Report: Novel pathogenic variants associated with early-onset parkinsonism and a mini-review.病例报告：与早发性帕金森病相关的新型致病变异及文献综述
Front Genet. 2025 Jul 29;16:1588812. doi: 10.3389/fgene.2025.1588812. eCollection 2025.
2
ATP13A2 (PARK9) and basal ganglia function.ATP13A2（PARK9）与基底神经节功能。
Front Neurol. 2024 Jan 5;14:1252400. doi: 10.3389/fneur.2023.1252400. eCollection 2023.
3
Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.遗传证据表明帕金森病中内溶酶体功能障碍：批判性综述。
Int J Mol Sci. 2023 Mar 28;24(7):6338. doi: 10.3390/ijms24076338.
4
The Roles of Gene Mutations Leading to Abnormal Aggregation of α-Synuclein in Parkinson's Disease.导致α-突触核蛋白异常聚集的基因突变在帕金森病中的作用
Front Cell Neurosci. 2022 Jul 6;16:927682. doi: 10.3389/fncel.2022.927682. eCollection 2022.
5
A Practical Approach to Early-Onset Parkinsonism.早发性帕金森病的实用处理方法。
J Parkinsons Dis. 2022;12(1):1-26. doi: 10.3233/JPD-212815.
6
ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress.ATP13A2 介导的内溶酶体多胺输出可抵抗线粒体氧化应激。
Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31198-31207. doi: 10.1073/pnas.1922342117. Epub 2020 Nov 23.
7
Psychiatric Manifestations of Mutations.突变的精神症状表现
Mov Disord Clin Pract. 2020 Sep 4;7(7):838-841. doi: 10.1002/mdc3.13034. eCollection 2020 Oct.
8
Is Pallido-Pyramidal Syndrome Still a Useful Concept? No.苍白球-锥体束综合征仍是一个有用的概念吗？不是。
Mov Disord Clin Pract. 2019 Oct 14;7(1):27-29. doi: 10.1002/mdc3.12843. eCollection 2020 Jan.
9
Vesicular Dysfunction and the Pathogenesis of Parkinson's Disease: Clues From Genetic Studies.囊泡功能障碍与帕金森病的发病机制：来自遗传学研究的线索
Front Neurosci. 2020 Jan 8;13:1381. doi: 10.3389/fnins.2019.01381. eCollection 2019.
10
Action Myoclonus and Seizure in Kufor-Rakeb Syndrome.库福-拉凯布综合征中的动作性肌阵挛和癫痫发作
Mov Disord Clin Pract. 2017 Dec 28;5(2):195-199. doi: 10.1002/mdc3.12570. eCollection 2018 Mar-Apr.