Associated Papers
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 2025
Genetic and imaging features of CADASIL patients with acute ischemic stroke.
Park JY et al.
Scientific Reports, 2025
Intracerebral hemorrhage in CADASIL.
Hsu SL et al.
Journal of the Chinese Medical Association : Jcma, 2025
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
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
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Occurrence of Intracranial Hemorrhage and Associated Risk Factors in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Systematic Review and Meta-Analysis.
Lai QL et al.
Journal of Clinical Neurology (seoul, Korea), 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
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G et al.
Human Molecular Genetics, 2020
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.
Kim Y et al.
Medicina (kaunas, Lithuania), 2019
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
Maksemous N et al.
Human Genomics, 2016
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Kim YE et al.
Neurobiology of Aging, 2014
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
The spectrum of mutations for CADASIL diagnosis.
Federico A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005