Associated Papers
Intracerebral hemorrhage in CADASIL.
Hsu SL et al.
Journal of the Chinese Medical Association : Jcma, 2025
Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.
Ishiyama H et al.
Annals of Neurology, 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
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
Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL.
Ueda A et al.
Frontiers in Neurology, 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
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Clinical and imaging features of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cysteine-sparing NOTCH3 mutations.
Kim H et al.
Plos One, 2020
Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.
Nannucci S et al.
Plos One, 2018
Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.
Chen S et al.
Cns Neuroscience & Therapeutics, 2017
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
Bianchi S et al.
Journal of Neurology, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 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
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
Escary JL et al.
Human Mutation, 2000
CADASIL: hereditary arteriopathy leading to multiple brain infarcts and dementia.
Viitanen M et al.
Annals of the New York Academy of Sciences, 2000
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.
Dichgans M et al.
European Journal of Human Genetics : Ejhg, 2000
CADASIL: hereditary disease of arteries causing brain infarcts and dementia.
Kalimo H et al.
Neuropathology and Applied Neurobiology, 1999
[CADASIL disease: a hereditary arterial disease leading to brain infarctions and dementia].
Kalimo H et al.
Duodecim; Laaketieteellinen Aikakauskirja, 1998