• 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

相似文献

1
Chorea Associated with Genetic-Confirmed CADASIL.与基因确诊的大脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)相关的舞蹈症
Mov Disord Clin Pract. 2023 Aug 8;10(9):1433-1435. doi: 10.1002/mdc3.13847. eCollection 2023 Sep.
2
Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL.NOTCH3 基因 Y189C 突变在波兰 CADASIL 家系中的临床表型。
Folia Neuropathol. 2020;58(1):83-92. doi: 10.5114/fn.2020.94009.
3
Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL.两例中国人 CADASIL 患者中的新型和反复出现的 NOTCH3 突变。
Neurodegener Dis. 2019;19(1):35-42. doi: 10.1159/000500166. Epub 2019 Jun 18.
4
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.靶向二代测序在伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)诊断患者中鉴定出NOTCH3基因新突变。
Hum Genomics. 2016 Nov 24;10(1):38. doi: 10.1186/s40246-016-0093-z.
5
Peculiar CADASIL phenotype in monozygotic twins carrying a novel NOTCH3 pathogenetic variant.携带新型 NOTCH3 致病变异的同卵双胞胎中独特的 CADASIL 表型。
Eur Rev Med Pharmacol Sci. 2024 Feb;28(4):1605-1609. doi: 10.26355/eurrev_202402_35489.
6
Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.中国 CADASIL 患者中同源 NOTCH3 p.R587C 突变:病例报告。
BMC Neurol. 2020 Mar 2;20(1):72. doi: 10.1186/s12883-020-01660-0.
7
CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation.伴有 cord 受累的 CADASIL 与一种新的非典型 NOTCH3 突变相关。
J Neurol Neurosurg Psychiatry. 2011 Aug;82(8):855-60. doi: 10.1136/jnnp.2010.223297. Epub 2011 Jan 8.
8
New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(CADASIL)患者Notch3基因的新突变
J Neurol Sci. 2015 Feb 15;349(1-2):196-201. doi: 10.1016/j.jns.2015.01.018. Epub 2015 Jan 17.
9
The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations.中国NOTCH3突变患者的遗传谱及CADASIL筛查量表评估
J Neurol Sci. 2015 Jul 15;354(1-2):63-9. doi: 10.1016/j.jns.2015.04.047. Epub 2015 May 7.
10
A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene.一个 Notch3 基因exon 10 上具有新突变的中国 CADASIL 家系。
J Stroke Cerebrovasc Dis. 2021 Aug;30(8):105674. doi: 10.1016/j.jstrokecerebrovasdis.2021.105674. Epub 2021 Jun 10.

引用本文的文献

1
Vascular Leukoencephalopathy Associated Chorea Due to A Heterozygous Htra 1 Variant: Novel Presentation of Cadasil Type II.因杂合型Htra 1变异导致的血管性白质脑病相关性舞蹈症:卡-萨综合征II型的新表现
Mov Disord Clin Pract. 2024 Oct;11(10):1301-1304. doi: 10.1002/mdc3.14186. Epub 2024 Aug 6.
2
Chorea Associated with Notch3 Gene Mutation.与Notch3基因突变相关的舞蹈症
Mov Disord Clin Pract. 2024 Jul;11(7):902-904. doi: 10.1002/mdc3.14053. Epub 2024 May 13.
3
CADASIL: A NOTCH3-associated cerebral small vessel disease.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病:一种与NOTCH3相关的脑小血管病。
J Adv Res. 2024 Dec;66:223-235. doi: 10.1016/j.jare.2024.01.001. Epub 2024 Jan 2.

本文引用的文献

1
Antiphospholipid-Related Chorea: Two Case Reports and Role of Metabolic Imaging.抗磷脂相关舞蹈症:两例报告及代谢成像的作用
Mov Disord Clin Pract. 2022 Mar 28;9(4):516-521. doi: 10.1002/mdc3.13432. eCollection 2022 May.
2
Case Report: Progressive Asymmetric Parkinsonism Secondary to CADASIL Without Dementia.病例报告:无痴呆的伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病继发进行性不对称帕金森病
Front Neurol. 2022 Jan 10;12:760164. doi: 10.3389/fneur.2021.760164. eCollection 2021.
3
Variants and Genotype-Phenotype Features in Chinese CADASIL Patients.中国CADASIL患者的变异及基因型-表型特征
Front Genet. 2021 Jul 15;12:705284. doi: 10.3389/fgene.2021.705284. eCollection 2021.
4
Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.伴皮质下梗死和白质脑病的脑动脉病(CADASIL)性共济失调:一例病理学确诊病例报告及文献复习。
Cerebellum. 2020 Dec;19(6):907-910. doi: 10.1007/s12311-020-01173-z.
5
CADASIL with Atypical Clinical Symptoms, Magnetic Resonance Imaging, and Novel Mutations: Two Case Reports and a Review of the Literature.CADASIL 伴不典型临床表现、磁共振成像及新突变:两例病例报告及文献复习
J Mol Neurosci. 2019 Aug;68(4):529-538. doi: 10.1007/s12031-019-01313-z. Epub 2019 Apr 16.
6
Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation.伴有R544C突变的脑常染色体显性动脉病伴皮质下梗死和白质脑病患者的表型特征。
Dement Neurocogn Disord. 2016 Mar;15(1):15-19. doi: 10.12779/dnd.2016.15.1.15. Epub 2016 Mar 31.
7
CARASIL families from India with 3 novel null mutations in the gene.来自印度的伴有该基因3种新型无效突变的CARASIL家族。
Neurology. 2017 Dec 5;89(23):2392-2394. doi: 10.1212/WNL.0000000000004710. Epub 2017 Nov 3.
8
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.以大脑常染色体显性遗传性动脉病伴皮质下梗死和白质脑病(CADASIL)为例的小血管病:临床、诊断及管理方面的最新进展
BMC Med. 2017 Feb 24;15(1):41. doi: 10.1186/s12916-017-0778-8.
9
Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study.一对携带R1006C突变的单卵双生子CADASIL患者的帕金森综合征:一项经颅超声检查研究
Neurol Sci. 2016 Jun;37(6):875-81. doi: 10.1007/s10072-016-2497-x. Epub 2016 Feb 5.
10
Reversible chorea and parkinsonism in a patient with systemic lupus erythematosus.系统性红斑狼疮患者出现的可逆性舞蹈症和帕金森症。
Neurol Sci. 2016 Mar;37(3):491-2. doi: 10.1007/s10072-015-2443-3. Epub 2015 Dec 21.

Chorea Associated with Genetic-Confirmed CADASIL.

作者信息

Kim Min Seung, Park Don Gueu, Yoon Jung Han

机构信息

Department of Neurology, Parkinson Center Ajou University School of Medicine Suwon Republic of Korea.

Department of Neurology Dongtan Sacred Heart Hospital Hallym University College of Medicine Hwaseong Republic of Korea.

出版信息

Mov Disord Clin Pract. 2023 Aug 8;10(9):1433-1435. doi: 10.1002/mdc3.13847. eCollection 2023 Sep.

DOI:10.1002/mdc3.13847
PMID:37772287
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10525063/
Abstract
摘要