Associated Papers
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.
Korvatska O et al.
Journal of the Neurological Sciences, 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
The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.
Guo L et al.
Cns Neuroscience & Therapeutics, 2021
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
32457593 (PubMed )
Supplement: Table_1.DOCX
CADASIL with Atypical Clinical Symptoms, Magnetic Resonance Imaging, and Novel Mutations: Two Case Reports and a Review of the Literature.
Sari US et al.
Journal of Molecular Neuroscience : Mn, 2019
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Kunii M et al.
Clinical Genetics, 2018
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
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Testi S et al.
Journal of the Neurological Sciences, 2012
The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome.
Uyguner ZO et al.
Journal of the Neurological Sciences, 2006
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