Associated Papers
Clinical application of whole exome sequencing for recurrent early pregnancy loss.
Liu C et al.
Asian Journal of Surgery, 2024
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
Landscape of Genetic Mutations in Appendiceal Cancers.
Constantin M et al.
Cancers, 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
Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients.
Nogueira R et al.
Arquivos De Neuro-psiquiatria, 2023
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
Genotypic and Phenotypic Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy from China.
Zhang C et al.
European Neurology, 2021
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
32457593 (PubMed )
Supplement: Table_1.DOCX
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Kunii M et al.
Clinical Genetics, 2018
HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease.
Li S et al.
Molecular Biosystems, 2016
26661679 (PubMed )
Supplement: supp_c5mb00681c3.pdf
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
[A cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy pedigree: clinical pathology, neuroimaging and molecular genetics studies].
Chang MZ et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2011
Select a paper to view details