Associated Papers
Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.
Cerfontaine MN et al.
Annals of Neurology, 2025
Signaling pathways and molecular mechanisms involved in the onset and progression of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); a focus on Notch3 signaling.
Heidari P et al.
The Journal of Headache and Pain, 2025
Synergistic effects of mutation and glycosylation on disease progression.
Suzuki S et al.
Frontiers in Molecular Biosciences, 2025
Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.
Zhao Y et al.
Frontiers in Neurology, 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
First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts-case report and brief review.
Liu W et al.
Bmc Neurology, 2024
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients.
Nogueira R et al.
Arquivos De Neuro-psiquiatria, 2023
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Hack RJ et al.
Stroke, 2022
A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL: A case report.
Dang J et al.
Medicine, 2022
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.
Wollenweber FA et al.
Stroke, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL.
Monet-Leprêtre M et al.
Brain : a Journal of Neurology, 2013
CADASIL with cord involvement associated with a novel and atypical NOTCH3 mutation.
Bentley P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2011
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.
Lee YC et al.
Journal of Neurology, 2009
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain.
Fouillade C et al.
Human Mutation, 2008
Physiology and pathology of notch signalling system.
Bianchi S et al.
Journal of Cellular Physiology, 2006
CADASIL mutations impair Notch3 glycosylation by Fringe.
Arboleda-Velasquez JF et al.
Human Molecular Genetics, 2005
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
Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway.
Joutel A et al.
American Journal of Human Genetics, 2004
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.
Joutel A et al.
Lancet (london, England), 2001
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
The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.
Joutel A et al.
The Journal of Clinical Investigation, 2000
[CADASIL: genetics and physiopathology].
Joutel A et al.
Bulletin De L'academie Nationale De Medecine, 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