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Top-NOTCH3 Variants in the Population at Large.

作者信息

Kalaria Raj N, Kittner Steven J

机构信息

Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom (R.N.K.).

Department of Neurology, University of Maryland School of Medicine and Baltimore VAMC (S.J.K.).

出版信息

Stroke. 2020 Dec;51(12):3482-3484. doi: 10.1161/STROKEAHA.120.031609. Epub 2020 Nov 9.

DOI:10.1161/STROKEAHA.120.031609
PMID:33161845
Abstract
摘要

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Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review.导致CADASIL或CADASIL样脑小血管病的最常见NOTCH3突变:一项系统综述。
Cereb Circ Cogn Behav. 2024 Jun 3;6:100227. doi: 10.1016/j.cccb.2024.100227. eCollection 2024.
2
SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.SNP 与 Notch 超家族的结构研究为针对 CADASIL 综合征和神经退行性疾病的新型药物靶点提供了新的见解。
Genes (Basel). 2024 Apr 23;15(5):529. doi: 10.3390/genes15050529.
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Current perspectives on prevention of vascular cognitive impairment and promotion of vascular brain health.
关于预防血管性认知障碍和促进血管性脑健康的当前观点。
Expert Rev Neurother. 2024 Jan-Jun;24(1):25-44. doi: 10.1080/14737175.2023.2273393. Epub 2024 Jan 8.
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ER stress induced immunopathology involving complement in CADASIL: implications for therapeutics.CADASIL 中涉及补体的 ER 应激诱导免疫病理学:治疗意义。
Acta Neuropathol Commun. 2023 May 8;11(1):76. doi: 10.1186/s40478-023-01558-1.
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The pericyte: A critical cell in the pathogenesis of CADASIL.周细胞:大脑常染色体显性动脉病伴皮质下梗死和白质脑病(CADASIL)发病机制中的关键细胞。
Cereb Circ Cogn Behav. 2021;2:100031. doi: 10.1016/j.cccb.2021.100031.