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Eighteen-Year Disease Progression and Survival in CADASIL.

作者信息

Gravesteijn Gido, Hack Remco J, Opstal Anna M van, van Eijsden Bastian J, Middelkoop Huub A M, Rodriguez Girondo Mar D M, Aartsma-Rus Annemieke, Grond Jeroen van de, Rutten Julie W, Oberstein Saskia A J Lesnik

机构信息

Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.

出版信息

J Stroke. 2021 Jan;23(1):132-134. doi: 10.5853/jos.2020.04112. Epub 2021 Jan 31.

DOI:10.5853/jos.2020.04112
PMID:33600711
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7900403/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a4e/7900403/7eee271a0159/jos-2020-04112f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a4e/7900403/7eee271a0159/jos-2020-04112f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a4e/7900403/7eee271a0159/jos-2020-04112f1.jpg

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SARS-CoV-2 infection activating a novel variant of the gene and subsequently causing development of CADASIL.

本文引用的文献

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The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.NOTCH3 致病变异位置对 CADASIL 疾病严重程度的影响:与 EGFr 7-34 致病变异相比,NOTCH3 EGFr 1-6 致病变异与更严重的表型和更低的生存率相关。
Genet Med. 2019 Mar;21(3):676-682. doi: 10.1038/s41436-018-0088-3. Epub 2018 Jul 22.
2
Prediction of 3-year clinical course in 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)3年临床病程的预测
Neurology. 2016 Oct 25;87(17):1787-1795. doi: 10.1212/WNL.0000000000003252. Epub 2016 Sep 30.
3
严重急性呼吸综合征冠状病毒2(SARS-CoV-2)感染激活该基因的一种新变体,随后导致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)的发展。
Arch Med Sci. 2022 Apr 4;19(6):1781-1794. doi: 10.5114/aoms/146978. eCollection 2023.
4
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.
5
Elderly CADASIL patients with intact neurological status.神经系统状态完好的老年CADASIL患者。
J Stroke. 2022 Sep;24(3):352-362. doi: 10.5853/jos.2022.01578. Epub 2022 Sep 30.
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Effect of EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.EGFr 组、性别和心血管危险因素对 CADASIL 临床和神经影像学结局的影响。
Stroke. 2022 Oct;53(10):3133-3144. doi: 10.1161/STROKEAHA.122.039325. Epub 2022 Jul 13.
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Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12751. doi: 10.1111/nan.12751. Epub 2021 Jul 30.
Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals.
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