Associated Papers
Light-chain split luciferase assay implicates pathological NOTCH3 thiol reactivity in inherited cerebral small vessel disease.
Cartee NMP et al.
The Journal of Biological Chemistry, 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
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.
Lee SJ et al.
The Journal of Biological Chemistry, 2023
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Testi S et al.
Journal of the Neurological Sciences, 2012
NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.
Wang Z et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2011
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study.
Mazzucco S et al.
European Neurology, 2009
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