• 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

Huntington's Disease Gene Hunters: An Expanding Tale.

作者信息

Rosser Anne E, Jones Lesley

机构信息

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences Cardiff University School of Medicine Cardiff United Kingdom.

Cardiff Brain Repair Group Cardiff University School Biosciences Cardiff United Kingdom.

出版信息

Mov Disord Clin Pract. 2021 Dec 16;9(3):330-333. doi: 10.1002/mdc3.13375. eCollection 2022 Apr.

DOI:10.1002/mdc3.13375
PMID:35392298
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8974877/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55f5/8974877/c13ace5e62f5/MDC3-9-330-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55f5/8974877/c13ace5e62f5/MDC3-9-330-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/55f5/8974877/c13ace5e62f5/MDC3-9-330-g001.jpg

相似文献

1
Huntington's Disease Gene Hunters: An Expanding Tale.亨廷顿舞蹈症基因探寻者：一个不断扩展的故事
Mov Disord Clin Pract. 2021 Dec 16;9(3):330-333. doi: 10.1002/mdc3.13375. eCollection 2022 Apr.
2
A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease.针对亨廷顿舞蹈病体细胞不稳定性的治疗的CAG重复阈值。
Brain. 2024 May 3;147(5):1784-1798. doi: 10.1093/brain/awae063.
3
Subcellular Localization And Formation Of Huntingtin Aggregates Correlates With Symptom Onset And Progression In A Huntington'S Disease Model.亨廷顿蛋白聚集体的亚细胞定位及形成与亨廷顿舞蹈病模型中的症状发作和进展相关。
Brain Commun. 2020 Aug 3;2(2):fcaa066. doi: 10.1093/braincomms/fcaa066. eCollection 2020.
4
Neuropathological diagnosis and CAG repeat expansion in Huntington's disease.亨廷顿舞蹈病的神经病理学诊断与CAG重复序列扩增
J Neurol Neurosurg Psychiatry. 1996 Jan;60(1):78-81. doi: 10.1136/jnnp.60.1.78.
5
[Importance of the number of trinucleotide repeat expansions in the clinical manifestations of Huntington's chorea].[三核苷酸重复扩增数目在亨廷顿舞蹈病临床表现中的重要性]
Srp Arh Celok Lek. 1998 Mar-Apr;126(3-4):77-82.
6
Psychiatric symptoms do not correlate with cognitive decline, motor symptoms, or CAG repeat length in Huntington's disease.在亨廷顿舞蹈症中，精神症状与认知衰退、运动症状或CAG重复序列长度无关。
Arch Neurol. 1996 Jun;53(6):493-7. doi: 10.1001/archneur.1996.00550060035012.
7
Prediction of manifest Huntington's disease with clinical and imaging measures: a prospective observational study.利用临床和影像学指标预测明显亨廷顿病：一项前瞻性观察研究。
Lancet Neurol. 2014 Dec;13(12):1193-201. doi: 10.1016/S1474-4422(14)70238-8. Epub 2014 Nov 3.
8
In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease.小鼠体内的CRISPR-Cas9基因组编辑鉴定出亨廷顿舞蹈病中体细胞CAG重复序列不稳定性的遗传修饰因子。
Nat Genet. 2025 Feb;57(2):314-322. doi: 10.1038/s41588-024-02054-5. Epub 2025 Jan 22.
9
Modification of Huntington's disease by short tandem repeats.短串联重复序列对亨廷顿舞蹈症的修饰作用
Brain Commun. 2024 Jan 23;6(2):fcae016. doi: 10.1093/braincomms/fcae016. eCollection 2024.
10
Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies.亨廷顿病中断序列变异和发病年龄：临床意义和新兴疗法。
Lancet Neurol. 2020 Nov;19(11):930-939. doi: 10.1016/S1474-4422(20)30343-4.

引用本文的文献

1
Autophagy and Cellular Senescence in Alzheimer's Disease: Key Drivers of Neurodegeneration.阿尔茨海默病中的自噬与细胞衰老：神经退行性变的关键驱动因素
CNS Neurosci Ther. 2025 Jul;31(7):e70503. doi: 10.1111/cns.70503.

本文引用的文献

1
Altered iron and myelin in premanifest Huntington's Disease more than 20 years before clinical onset: Evidence from the cross-sectional HD Young Adult Study.在临床症状出现前 20 多年的无症状亨廷顿病患者中，铁和髓磷脂发生改变：来自横断面亨廷顿病青年研究的证据。
EBioMedicine. 2021 Mar;65:103266. doi: 10.1016/j.ebiom.2021.103266. Epub 2021 Mar 9.
2
hiPSCs for predictive modelling of neurodegenerative diseases: dreaming the possible.人诱导多能干细胞在神经退行性疾病预测模型中的应用：梦想成真。
Nat Rev Neurol. 2021 Jun;17(6):381-392. doi: 10.1038/s41582-021-00465-0. Epub 2021 Mar 3.
3
Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models.
CAG/CTG 重复不稳定的修饰因子：来自哺乳动物模型的见解。
J Huntingtons Dis. 2021;10(1):123-148. doi: 10.3233/JHD-200426.
4
Large Animal Models of Huntington's Disease: What We Have Learned and Where We Need to Go Next.亨廷顿病的大动物模型：我们的所得与未来之路。
J Huntingtons Dis. 2020;9(3):201-216. doi: 10.3233/JHD-200425.
5
Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities.亨廷顿病：分子发病机制和治疗机会的新见解。
Nat Rev Neurol. 2020 Oct;16(10):529-546. doi: 10.1038/s41582-020-0389-4. Epub 2020 Aug 14.
6
Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington's disease Young Adult Study (HD-YAS): a cross-sectional analysis.亨廷顿病青年研究（HD-YAS）中基因携带者的生物学和临床特征：一项横断面分析。
Lancet Neurol. 2020 Jun;19(6):502-512. doi: 10.1016/S1474-4422(20)30143-5. Epub 2020 May 26.
7
Targeting Huntingtin Expression in Patients with Huntington's Disease.靶向亨廷顿病患者的亨廷顿蛋白表达。
N Engl J Med. 2019 Jun 13;380(24):2307-2316. doi: 10.1056/NEJMoa1900907. Epub 2019 May 6.
8
Data Analytics from Enroll-HD, a Global Clinical Research Platform for Huntington's Disease.来自Enroll-HD的数据分析，一个用于亨廷顿舞蹈症的全球临床研究平台。
Mov Disord Clin Pract. 2016 Jun 22;4(2):212-224. doi: 10.1002/mdc3.12388. eCollection 2017 Mar-Apr.
9
Striatal neurons directly converted from Huntington's disease patient fibroblasts recapitulate age-associated disease phenotypes.从亨廷顿舞蹈症患者成纤维细胞直接转化而来的纹状体神经元重现了与年龄相关的疾病表型。
Nat Neurosci. 2018 Mar;21(3):341-352. doi: 10.1038/s41593-018-0075-7. Epub 2018 Feb 5.
10
Chromosomal instability during neurogenesis in Huntington's disease.亨廷顿舞蹈病神经发生过程中的染色体不稳定性
Development. 2018 Jan 29;145(2):dev156844. doi: 10.1242/dev.156844.