• 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
Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation.脑内出血对携带NOTCH3 R544C突变的CADASIL患者的有害影响。
J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):841-843. doi: 10.1136/jnnp-2018-319268. Epub 2018 Oct 11.
2
R558C NOTCH3 Mutation in a CADASIL Patient with Intracerebral Hemorrhage: A Case Report with Literature Review.R558C NOTCH3 突变致颅内出血的 CADASIL 患者:病例报告并文献复习
J Stroke Cerebrovasc Dis. 2022 Jul;31(7):106541. doi: 10.1016/j.jstrokecerebrovasdis.2022.106541. Epub 2022 May 3.
3
cysteine-altering variant is an important risk factor for stroke in the Taiwanese population.半胱氨酸改变变异是台湾人群中风的一个重要危险因素。
Neurology. 2020 Jan 7;94(1):e87-e96. doi: 10.1212/WNL.0000000000008700. Epub 2019 Dec 2.
4
A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.一名经病理证实携带纯合NOTCH3基因p.Arg544Cys突变的日本CADASIL患者。
J Neurol Sci. 2018 Nov 15;394:38-40. doi: 10.1016/j.jns.2018.08.029. Epub 2018 Aug 29.
5
Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation.携带R544C NOTCH3突变的大脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)中脑微出血部位的临床意义
PLoS One. 2015 Feb 18;10(2):e0118163. doi: 10.1371/journal.pone.0118163. eCollection 2015.
6
Prominent juxtacortical white matter lesion hallmarks -related intracerebral haemorrhage.显著的皮质下白质病灶标志物相关的脑出血。
Stroke Vasc Neurol. 2022 Feb;7(1):38-46. doi: 10.1136/svn-2021-001020. Epub 2021 Aug 3.
7
Imaging-based pregenetic screening for NOTCH3 p.R544C mutation in ischemic stroke in Taiwan.基于影像学的 NOTCH3 p.R544C 突变在台湾缺血性卒中的产前筛查。
Ann Clin Transl Neurol. 2020 Oct;7(10):1951-1961. doi: 10.1002/acn3.51191. Epub 2020 Sep 15.
8
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.台湾汉族人群中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)的特征:独特的基因型和表型谱
PLoS One. 2015 Aug 26;10(8):e0136501. doi: 10.1371/journal.pone.0136501. eCollection 2015.
9
Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.韩国 CADASIL 中种族特异性遗传功能的新特征
Medicina (Kaunas). 2019 Aug 22;55(9):521. doi: 10.3390/medicina55090521.
10
Prevalence and clinical characteristics of stroke patients with p.R544C mutation in Taiwan.台湾地区携带 p.R544C 突变的中风患者的患病率和临床特征。
Ann Clin Transl Neurol. 2018 Nov 20;6(1):121-128. doi: 10.1002/acn3.690. eCollection 2019 Jan.

引用本文的文献

1
Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.遗传性出血性脑血管病:对临床管理的启示
Ann Neurosci. 2025 Mar 18:09727531241308346. doi: 10.1177/09727531241308346.
2
Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.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中的脑出血
Eur J Neurol. 2025 Mar;32(3):e70100. doi: 10.1111/ene.70100.
3
Characteristics and temporal evolution of asymptomatic diffusion-weighted imaging lesions in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).伴皮质下梗死和白质脑病的脑常染色体显性遗传性动脉病(CADASIL)患者无症状性弥散加权成像病变的特征及其时间演变。
Eur J Neurol. 2024 Dec;31(12):e16519. doi: 10.1111/ene.16519. Epub 2024 Oct 11.
4
Prevalence, clinical characteristics, and risk factors of intracerebral haemorrhage in CADASIL: a case series and systematic review.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)患者脑出血的患病率、临床特征及危险因素:病例系列研究与系统评价
J Neurol. 2024 May;271(5):2423-2433. doi: 10.1007/s00415-023-12177-0. Epub 2024 Jan 13.
5
Microbleed clustering in thalamus sign in CADASIL patients with R75P mutation.伴有R75P突变的CADASIL患者丘脑微出血聚集征
Front Neurol. 2023 Aug 23;14:1241678. doi: 10.3389/fneur.2023.1241678. eCollection 2023.
6
The CADA-MRIT: An MRI Inventory Tool for Evaluating Cerebral Lesions in CADASIL Across Cohorts.CADA-MRIT:一种用于评估 CADASIL 患者队列中脑病变的 MRI 评估工具。
Neurology. 2023 Oct 24;101(17):e1665-e1677. doi: 10.1212/WNL.0000000000207713. Epub 2023 Aug 31.
7
Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review.表现为反复全面性发作的 CADASIL 患者:病例报告及文献复习
BMC Neurol. 2022 Sep 30;22(1):375. doi: 10.1186/s12883-022-02889-7.
8
Occurrence of Intracranial Hemorrhage and Associated Risk Factors in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Systematic Review and Meta-Analysis.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患者颅内出血的发生情况及相关危险因素:一项系统评价和Meta分析
J Clin Neurol. 2022 Sep;18(5):499-506. doi: 10.3988/jcn.2022.18.5.499.
9
Reduced macular vessel density and inner retinal thickness correlate with the severity of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).黄斑血管密度和内层视网膜厚度的降低与伴有皮质下梗死和白质脑病的脑常染色体显性动脉病(CADASIL)的严重程度相关。
PLoS One. 2022 May 26;17(5):e0268572. doi: 10.1371/journal.pone.0268572. eCollection 2022.
10
Prominent juxtacortical white matter lesion hallmarks -related intracerebral haemorrhage.显著的皮质下白质病灶标志物相关的脑出血。
Stroke Vasc Neurol. 2022 Feb;7(1):38-46. doi: 10.1136/svn-2021-001020. Epub 2021 Aug 3.

本文引用的文献

1
Cerebral Microbleeds, Hypertension, and Intracerebral Hemorrhage in Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.伴有皮质下梗死和白质脑病的脑常染色体显性动脉病中的脑微出血、高血压和脑出血
Front Neurol. 2017 May 15;8:203. doi: 10.3389/fneur.2017.00203. eCollection 2017.
2
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.台湾汉族人群中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)的特征:独特的基因型和表型谱
PLoS One. 2015 Aug 26;10(8):e0136501. doi: 10.1371/journal.pone.0136501. eCollection 2015.
3
Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation.携带R544C NOTCH3突变的大脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)中脑微出血部位的临床意义
PLoS One. 2015 Feb 18;10(2):e0118163. doi: 10.1371/journal.pone.0118163. eCollection 2015.
4
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
Lancet Neurol. 2009 Jul;8(7):643-53. doi: 10.1016/S1474-4422(09)70127-9.
5
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.中国CADASIL患者中NOTCH3突变的人群特异性谱、MRI特征及奠基者效应
J Neurol. 2009 Feb;256(2):249-55. doi: 10.1007/s00415-009-0091-3. Epub 2009 Feb 26.

Detrimental effects of intracerebral haemorrhage on patients with CADASIL harbouring NOTCH3 R544C mutation.

作者信息

Chen Chih-Hao, Tang Sung-Chun, Cheng Yu-Wen, Tsai Hsin-Hsi, Chi Nai-Fang, Sung Pi-Shan, Yeh Hsu-Ling, Lien Li-Ming, Lin Huey-Juan, Lee Ming-Jen, Hu Chaur-Jong, Chiou Hung-Yi, Jeng Jiann-Shing

机构信息

Stroke Center and Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.

Graduate Institute of Epidemiology and Preventive Medicine, College of Public Health, National Taiwan University, Taipei, Taiwan.

出版信息

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):841-843. doi: 10.1136/jnnp-2018-319268. Epub 2018 Oct 11.

DOI:10.1136/jnnp-2018-319268
PMID:30309883
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6585573/
Abstract
摘要