Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL
Author:
Publisher
Elsevier BV
Subject
Health, Toxicology and Mutagenesis,Genetics,Molecular Biology
Reference18 articles.
1. The pathogenesis of CADASIL: an update;Kalaria;J. Neurol. Sci.,2004
2. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: phenotypic and mutational spectrum;Dichgans;J. Neurol. Sci.,2002
3. Notch signaling: a dance of proteins changing partners;Kadesch;Exp. Cell Res.,2000
4. The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients;Joutel;J. Clin. Invest.,2000
5. Nuclear access and action of Notch in vivo;Struhl;Cell,1998
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1. Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease;Stroke;2021-12
2. Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report;BMC Neurology;2020-03-02
3. Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL;Annals of Clinical and Translational Neurology;2016-09-28
4. Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke;PLOS ONE;2015-08-25
5. Diagnostic criteria for CADASIL in the International Classification of Headache Disorders (ICHD-II): are they appropriate?;The Journal of Headache and Pain;2010-03-12
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