Associated Papers
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
Headache and NOTCH3 Gene Variants in Patients with CADASIL.
Szymanowicz O et al.
Neurology International, 2023
The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Cheng S et al.
Cell Discovery, 2023
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf
Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho BPH et al.
Jama Neurology, 2022
36300346 (PubMed )
Supplement: jamaneurol-e223832-s001.pdf
Comprehensive molecular characterization of pediatric radiation-induced high-grade glioma.
DeSisto J et al.
Nature Communications, 2021
34545084 (PubMed )
Supplement: 41467_2021_25709_MOESM12_ESM.xlsx › ST12
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
33712516 (PubMed )
Supplement: jnnp-2020-325838supp001.pdf
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
32457593 (PubMed )
Supplement: Table_1.DOCX
Clinical Features of 4 Novel NOTCH3 Mutations of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy in China.
Qin W et al.
Medical Science Monitor Basic Research, 2019
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
Bianchi S et al.
Journal of Neurology, 2015
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
24844136 (PubMed )
Supplement: supplement_2.doc
High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities.
Bianchi S et al.
Journal of Neurology, 2010
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
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