Associated Papers
Family Lore, a Variant of Uncertain Significance, and CADASIL.
Duarte R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024
Rare Sequence Variation Underlying Suspected Familial Cerebral Small-Vessel Disease.
Cho BPH et al.
Journal of the American Heart Association, 2024
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
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
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
Uemura M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2023
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Ni W et al.
Cns Neuroscience & Therapeutics, 2022
Association between NOTCH3 gene and Parkinson's disease based on whole-exome sequencing.
Zeng Q et al.
Frontiers in Aging Neuroscience, 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
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.
Rutten JW et al.
Neurology, 2020
Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients.
Mukai M et al.
Journal of Human Genetics, 2020
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
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