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Updated: Jun 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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Published on: August 20, 2019

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在NOTCH3中双变异的临床和神经辐射谱

Pablo Iruzubieta1, César Augusto Pinheiro Ferreira Alves2, Aisha M Al Shamsi3

  • 1Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom; Department of Neurology, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain; CIBERNED, Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), 28029, Madrid, Spain.

EBioMedicine
|August 27, 2024
PubMed
概括

双性NOTCH3变体导致不同的遗传性脑小血管疾病 (SVD). 功能丧失的变体导致神经发育障碍,而错误的变体导致类似CADASIL的表型,为新的NOTCH3-SVD分类提供信息.

关键词:
卡达西尔 (CADASIL) 是一种脑白细胞病变 (Leukoencephalopathy) 是一种脑白细胞病变.在NOTCH3中,神经发育障碍 神经发育障碍一次性中风,中风.

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