Associated Papers
Impairment of hippocampal gamma oscillations, mitochondria and neurovascular function in CADASIL.
Shao W et al.
Brain : a Journal of Neurology, 2026
Vascular smooth muscle cell loss, but not neuroinflammation, drives cerebrovascular reactivity impairment in Alzheimer's disease.
Yang X et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026
Serum NOTCH3 Extracellular Domain in Patients With CADASIL.
Kim H et al.
Neurology. Genetics, 2025
Extracellular domain shedding of NOTCH3 during endocytosis associated with heterogeneity between different CADASIL mutant activation mechanisms.
Hosseini-Alghaderi S et al.
Cell Communication and Signaling : Ccs, 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
A CADASIL NOTCH3 mutation leads to clonal hematopoiesis and expansion of Dnmt3a-R878H hematopoietic clones.
Sánchez-Lanzas R et al.
Leukemia, 2025
CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.
Wang Y et al.
Frontiers in Neurology, 2025
CADASIL: A NOTCH3-associated cerebral small vessel disease.
Yuan L et al.
Journal of Advanced Research, 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
Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL.
Dupré N et al.
The Journal of Clinical Investigation, 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
The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank.
Lin E et al.
Journal of Neurology, 2023
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
Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.
Hopkins CE et al.
Molecular Aspects of Medicine, 2023
Active immunotherapy reduces NOTCH3 deposition in brain capillaries in a CADASIL mouse model.
Oliveira DV et al.
Embo Molecular Medicine, 2023
Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease.
Littau JL et al.
Brain Pathology (zurich, Switzerland), 2022
Determination of Blood NOTCH3 Extracellular Domain and Jagged-1 Levels in Healthy Subjects.
Kim H et al.
International Journal of Molecular Sciences, 2022
Mechanisms regulating cerebral hypoperfusion in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Yan X et al.
Journal of Biomedical Research, 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
CADASIL from Bench to Bedside: Disease Models and Novel Therapeutic Approaches.
Manini A et al.
Molecular Neurobiology, 2021
Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions.
Arnardottir S et al.
Neurology. Genetics, 2021
The pericyte: A critical cell in the pathogenesis of CADASIL.
Ruchoux MM et al.
Cerebral Circulation - Cognition and Behavior, 2021
Genetic and nongenetic factors associated with CADASIL: A retrospective cohort study.
Ospina C et al.
Journal of the Neurological Sciences, 2020
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G et al.
Human Molecular Genetics, 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
Apolipoprotein E ε4 Is Associated With the Development of Incident Dementia in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients With p.Arg544Cys Mutation.
Lee JS et al.
Frontiers in Aging Neuroscience, 2020
Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.
Mishra A et al.
Brain : a Journal of Neurology, 2019
Cerebrovascular disorders associated with genetic lesions.
Karschnia P et al.
Cellular and Molecular Life Sciences : Cmls, 2019
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
Therapeutic antibody targeting of Notch3 signaling prevents mural cell loss in CADASIL.
Machuca-Parra AI et al.
The Journal of Experimental Medicine, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation.
Vishnevetsky A et al.
Eneurologicalsci, 2016
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