Associated Papers
Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.
Hou W et al.
Annals of Neurosciences, 2026
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 2025
High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.
Zambelli V et al.
Endocrine Pathology, 2025
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
The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.
Markus HS et al.
Physiological Reviews, 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
CADASIL: A NOTCH3-associated cerebral small vessel disease.
Yuan L et al.
Journal of Advanced Research, 2024
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) with Aortic Dissection.
Hayashi K et al.
Cureus, 2024
Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo models.
Gong Z et al.
Frontiers in Molecular Neuroscience, 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
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
Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Yamamoto Y et al.
Journal of Clinical Neurology (seoul, Korea), 2023
Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease.
Littau JL et al.
Brain Pathology (zurich, Switzerland), 2022
Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.
Hack RJ et al.
Stroke, 2022
Genotype and Phenotype Differences in CADASIL from an Asian Perspective.
Kim Y et al.
International Journal of Molecular Sciences, 2022
Specific Abnormalities in White Matter Pathways as Interface to Small Vessels Disease and Cognition in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Individuals.
Jacobs HIL et al.
Brain Connectivity, 2022
Genetic Study of Cerebral Small Vessel Disease in Chinese Han Population.
Wang Y et al.
Frontiers in Neurology, 2022
Overlapping Protein Accumulation Profiles of CADASIL and CAA: Is There a Common Mechanism Driving Cerebral Small-Vessel Disease?
Young KZ et al.
The American Journal of Pathology, 2021
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
CADASIL from Bench to Bedside: Disease Models and Novel Therapeutic Approaches.
Manini A et al.
Molecular Neurobiology, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
The pericyte: A critical cell in the pathogenesis of CADASIL.
Ruchoux MM et al.
Cerebral Circulation - Cognition and Behavior, 2021
Gene panel for Mendelian strokes.
Fang F et al.
Stroke and Vascular Neurology, 2020
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.
Rutten JW et al.
Neurology, 2020
Investigating diagnostic sequencing techniques for CADASIL diagnosis.
Dunn PJ et al.
Human Genomics, 2020
The Notch pathway in CNS homeostasis and neurodegeneration.
Ho DM et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2020
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Role of NOTCH3 Mutations in the Cerebral Small Vessel Disease Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Coupland K et al.
Stroke, 2018
Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.
Chen S et al.
Cns Neuroscience & Therapeutics, 2017
The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation.
Vishnevetsky A et al.
Eneurologicalsci, 2016
A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.
Fernández A et al.
Journal of Molecular Neuroscience : Mn, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism.
Cognat E et al.
Stroke, 2014
Review: cerebral amyloid angiopathy, prion angiopathy, CADASIL and the spectrum of protein elimination failure angiopathies (PEFA) in neurodegenerative disease with a focus on therapy.
Carare RO et al.
Neuropathology and Applied Neurobiology, 2013
Genetic animal models of cerebral vasculopathies.
Lee JH et al.
Progress in Molecular Biology and Translational Science, 2012
Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Wallays G et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2011
Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.
Arboleda-Velasquez JF et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
Arboleda-Velasquez JF et al.
Neurology, 2002
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
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
[Monitoring cognitive characteristics in a population with hereditary cerebrovascular disease (CADASIL) in Colombia].
Henao-Arboleda E et al.
Revista De Neurologia, 0