Associated Papers
Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.
Yang Z et al.
Journal of Magnetic Resonance Imaging : Jmri, 2026
Reduced SUMOylation impairs NOTCH3 signaling and cell survival in the pathogenesis of CADASIL.
Long L et al.
Cell Communication and Signaling : Ccs, 2025
[Geographic Distribution of Patients with CADASIL in Japan].
Mukai M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
A Novel Mutation in Exon 10 of the NOTCH3 Gene in Human Cerebral Microvascular Endothelial Cells Induces CADASIL-Like Pathology and the Therapeutic Effect of Edaravone Dexborneol on Hereditary and Non-hereditary Cerebral Small Vessel Disease.
Liu Y et al.
Neurochemical Research, 2025
The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.
Guyler SK et al.
Genes, 2025
Comorbidity Between Recurrent Major Depressive Disorder and CADASIL: A Case Report With a Brief Review of Published Cases.
Wang YM et al.
Clinical Case Reports, 2025
The role of NOTCH3 in CADASIL pathogenesis: insights into novel therapies.
Felix-Ilemhenbhio F et al.
Brain Research, 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
Genetic and imaging features of CADASIL patients with acute ischemic stroke.
Park JY et al.
Scientific Reports, 2025
Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review.
Geng Y et al.
The Neurologist, 2025
Bilateral Middle Cerebellar Peduncle Sign in a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy and Coronavirus Disease 2019.
Mitsutake A et al.
Internal Medicine (tokyo, Japan), 2025
Is migraine a common manifestation of CADASIL-Cons.
Wang YF
The Journal of Headache and Pain, 2025
Impaired Resting-State Functional Connectivity in Cerebral Autosomal-Dominant Arteriopathy, Subcortical Infarcts, and Leukoencephalopathy Mutant Mice.
Aykan SA et al.
Stroke, 2025
Intracerebral hemorrhage in CADASIL.
Hsu SL et al.
Journal of the Chinese Medical Association : Jcma, 2025
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
NOTCH3 Variant Position Affects the Phenotype at the Pluripotent Stem Cell Level in CADASIL.
Bugallo-Casal A et al.
Neuromolecular Medicine, 2025
The Triad of Blood-Brain Barrier Integrity: Endothelial Cells, Astrocytes, and Pericytes in Perinatal Stroke Pathophysiology.
Garcia-Martínez T et al.
International Journal of Molecular Sciences, 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
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
The N-acetylglucosaminyltransferase Radical fringe contributes to defects in JAG1-dependent turnover and signaling of NOTCH3 CADASIL mutants.
Suzuki S et al.
The Journal of Biological Chemistry, 2024
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
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
Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease.
Mizuta I et al.
Biomolecules, 2024
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice.
Romay MC et al.
The Journal of Clinical Investigation, 2024
Border-Zone Cerebral Infarcts Associated with COVID-19 in CADASIL: A Report of 3 Cases and Literature Review.
Aghetti A et al.
Cerebrovascular Diseases Extra, 2024
Mutant NOTCH3ECD Triggers Defects in Mitochondrial Function and Mitophagy in CADASIL Cell Models.
Wang W et al.
Journal of Alzheimer's Disease : Jad, 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
Acute bilateral multiple subcortical infarcts as manifestation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Huang H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants.
Cheng YW et al.
Journal of the American Heart Association, 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
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
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients.
Park HK et al.
Annals of Neurology, 2023
A midposition NOTCH3 truncation in inherited cerebral small vessel disease may affect the protein interactome.
Lee SJ et al.
The Journal of Biological Chemistry, 2023
Pathophysiology of migraine aura.
Sanchez Del Rio M et al.
Handbook of Clinical Neurology, 2023
Genetics of migraine: Delineation of contemporary understanding of the genetic underpinning of migraine.
de Boer I et al.
Handbook of Clinical Neurology, 2023
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Ni W et al.
Cns Neuroscience & Therapeutics, 2022
Elderly CADASIL patients with intact neurological status.
Zhang R et al.
Journal of Stroke, 2022
CADASIL mutations sensitize the brain to ischemia via spreading depolarizations and abnormal extracellular potassium homeostasis.
Oka F et al.
The Journal of Clinical Investigation, 2022
Oligomerization, trans-reduction, and instability of mutant NOTCH3 in inherited vascular dementia.
Young KZ et al.
Communications Biology, 2022