Associated Papers
SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.
Papageorgiou L et al.
Genes, 2024
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.
Romay MC et al.
The Journal of Clinical Investigation, 2024
38015629 (PubMed )
Supplement: jci-134-166134-s239.xlsx › 20220624_PAS_Sample_Sub
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf
The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.
Guo L et al.
Cns Neuroscience & Therapeutics, 2021
NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.
Cho BPH et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
33712516 (PubMed )
Supplement: jnnp-2020-325838supp001.pdf
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
32457593 (PubMed )
Supplement: Table_1.DOCX
Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.
Kim Y et al.
Medicina (kaunas, Lithuania), 2019
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
24844136 (PubMed )
Supplement: supplement_2.doc
Von Willebrand Factor permeates small vessels in CADASIL and inhibits smooth muscle gene expression.
Zhang X et al.
Translational Stroke Research, 2012
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