Associated Papers
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 2025
41300806 (PubMed )
Supplement: genes-16-01353-s001.zip › genes-3932398-supplementary.pdf
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
Cysteine-Altering NOTCH3 Variants Are Associated with an Increased Risk of Autoimmune Diseases.
Rieder E et al.
Journal of Clinical Medicine, 2023
37834922 (PubMed )
Supplement: jcm-12-06278-s001.zip › jcm-2609480-supplementary.pdf
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Cheng S et al.
Cell Discovery, 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
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
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Ni W et al.
Cns Neuroscience & Therapeutics, 2022
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
Whole-exome sequencing of Finnish patients with vascular cognitive impairment.
Mönkäre S et al.
European Journal of Human Genetics : Ejhg, 2021
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
32457593 (PubMed )
Supplement: Table_1.DOCX
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Rutten JW et al.
Annals of Clinical and Translational Neurology, 2016
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
Select a paper to view details