• 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

Rare GCH1 heterozygous variants contributing to Parkinson's disease.

作者信息

Xu Qian, Li Kai, Sun Qiying, Ding Dongxue, Zhao Yuwen, Yang Nannan, Luo Yang, Liu Zhenhua, Zhang Yuan, Wang Chunrong, Xia Kun, Yan Xinxiang, Jiang Hong, Shen Lu, Tang Beisha, Guo Jifeng

机构信息

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P.R. China.

National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, Hunan, P.R. China.

出版信息

Brain. 2017 Jul 1;140(7):e41. doi: 10.1093/brain/awx110.

DOI:10.1093/brain/awx110
PMID:28582483
Abstract
摘要

相似文献

1
Rare GCH1 heterozygous variants contributing to Parkinson's disease.导致帕金森病的罕见GCH1杂合变异体。
Brain. 2017 Jul 1;140(7):e41. doi: 10.1093/brain/awx110.
2
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.GCH1 变异与帕金森病的风险和发病年龄提前有关：一项两队列病例对照研究。
Transl Neurodegener. 2020 Aug 4;9(1):31. doi: 10.1186/s40035-020-00212-3.
3
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.GTP环化水解酶1突变携带者中的帕金森病
Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2.
4
Common and rare GCH1 variants are associated with Parkinson's disease.常见和罕见的 GCH1 变体与帕金森病有关。
Neurobiol Aging. 2019 Jan;73:231.e1-231.e6. doi: 10.1016/j.neurobiolaging.2018.09.008. Epub 2018 Sep 15.
5
Study of GCH1 and TH genes in Chinese patients with Parkinson's disease.中国帕金森病患者 GCH1 和 TH 基因研究。
Neurobiol Aging. 2018 Aug;68:159.e3-159.e6. doi: 10.1016/j.neurobiolaging.2018.02.004. Epub 2018 Apr 5.
6
Association analyses of variants of SIPA1L2, MIR4697, GCH1, VPS13C, and DDRGK1 with Parkinson's disease in East Asians.SIPA1L2、MIR4697、GCH1、VPS13C 和 DDRGK1 变体与东亚人群帕金森病的关联分析。
Neurobiol Aging. 2018 Aug;68:159.e7-159.e14. doi: 10.1016/j.neurobiolaging.2018.03.005. Epub 2018 Mar 10.
7
Association analysis of SYT11, FGF20, GCH1 rare variants in Parkinson's disease.帕金森病中SYT11、FGF20、GCH1罕见变异的关联分析
CNS Neurosci Ther. 2022 Jan;28(1):175-177. doi: 10.1111/cns.13745. Epub 2021 Oct 21.
8
Low frequency of GCH1 and TH mutations in Parkinson's disease.帕金森病中GCH1和TH突变的低频率
Parkinsonism Relat Disord. 2016 Aug;29:109-11. doi: 10.1016/j.parkreldis.2016.05.010. Epub 2016 May 7.
9
Abnormal myocardial scintigraphy in a GTP cyclohydrolase 1 mutation carrier with Parkinson's disease.一名患有帕金森病的GTP环化水解酶1突变携带者的心肌闪烁扫描异常。
Mov Disord. 2016 Mar;31(3):422-3. doi: 10.1002/mds.26523. Epub 2016 Feb 10.
10
GCH1 mutations in dopa-responsive dystonia and Parkinson's disease.GCH1 突变与多巴反应性肌张力障碍和帕金森病。
J Neurol. 2018 Aug;265(8):1860-1870. doi: 10.1007/s00415-018-8930-8. Epub 2018 Jun 14.

引用本文的文献

1
The Role of Cellular Defense Systems of Ferroptosis in Parkinson's Disease and Alzheimer's Disease.细胞防御系统在帕金森病和阿尔茨海默病中 ferroptosis 的作用。
Int J Mol Sci. 2023 Sep 14;24(18):14108. doi: 10.3390/ijms241814108.
2
Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.代谢物四氢生物蝶呤在多巴胺能神经元中的关键神经保护作用。
bioRxiv. 2023 May 8:2023.05.08.539795. doi: 10.1101/2023.05.08.539795.
3
Revealing a novel contributing landscape of ferroptosis-related genes in Parkinson's disease.揭示帕金森病中铁死亡相关基因的新型贡献图谱。
Comput Struct Biotechnol J. 2022 Sep 14;20:5218-5225. doi: 10.1016/j.csbj.2022.09.018. eCollection 2022.
4
A Putative Guanosine Triphosphate Cyclohydrolase I Named CaGCH1 Is Involved in Hyphal Branching and Fruiting Development in .一种名为CaGCH1的假定鸟苷三磷酸环化水解酶I参与了……的菌丝分支和子实体发育。
Front Microbiol. 2022 Apr 22;13:870658. doi: 10.3389/fmicb.2022.870658. eCollection 2022.
5
Gene4PD: A Comprehensive Genetic Database of Parkinson's Disease.Gene4PD：帕金森病综合遗传数据库。
Front Neurosci. 2021 Apr 26;15:679568. doi: 10.3389/fnins.2021.679568. eCollection 2021.
6
Characterizing the Expression Patterns of Parkinson's Disease Associated Genes.帕金森病相关基因表达模式的特征分析
Front Neurosci. 2021 Apr 1;15:629156. doi: 10.3389/fnins.2021.629156. eCollection 2021.
7
Targeted sequencing of Parkinson's disease loci genes highlights SYT11, FGF20 and other associations.帕金森病基因位点的靶向测序突显了 SYT11、FGF20 等关联。
Brain. 2021 Mar 3;144(2):462-472. doi: 10.1093/brain/awaa401.
8
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.GCH1 变异与帕金森病的风险和发病年龄提前有关：一项两队列病例对照研究。
Transl Neurodegener. 2020 Aug 4;9(1):31. doi: 10.1186/s40035-020-00212-3.
9
A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases.孟德尔和复杂人类疾病基因优先级排序工具综述
J Integr Bioinform. 2019 Sep 9;16(4):20180069. doi: 10.1515/jib-2018-0069.
10
Utility and implications of exome sequencing in early-onset Parkinson's disease.外显子组测序在早发性帕金森病中的作用和意义。
Mov Disord. 2019 Jan;34(1):133-137. doi: 10.1002/mds.27559. Epub 2018 Dec 10.