Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C174Y
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NOTCH3

NM_000435.3:p.C174Y

Associated Papers

Association between ischemic stroke, hemorrhagic stroke, dementia, and rs201118034 among general Taiwanese population.

Liaw YC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

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

36535904 (PubMed )
Supplement: awac486_supplementary_data.pdf

Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patients.

Mukai M et al.

Journal of Human Genetics, 2020

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

A Japanese CADASIL kindred with a novel two-base NOTCH3 mutation.

Suda S et al.

European Journal of Neurology, 2016

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Bianchi S et al.

Journal of Neurology, 2015

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

Liao YC et al.

Plos One, 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

Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients.

Formichi P et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013

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

Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study.

Rufa A et al.

Cerebrovascular Diseases (basel, Switzerland), 2011

Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients.

Formichi P et al.

Journal of Cellular Physiology, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy and right-to-left shunt: lack of evidence for an association in a prevalence study.

Mazzucco S et al.

European Neurology, 2009

Increased QT variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Piccirillo G et al.

European Journal of Neurology, 2008

Plasma levels of asymmetric dimethylarginine in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy.

Rufa A et al.

Cerebrovascular Diseases (basel, Switzerland), 2008

Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Rufa A et al.

Stroke, 2007

Cerebral arteriolar pathology in a 32-year-old patient with CADASIL.

Miao Q et al.

Neuropathology and Applied Neurobiology, 2006

CADASIL: a critical look at a Notch disease.

Louvi A et al.

Developmental Neuroscience, 2006

Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Rufa A et al.

Stroke, 2005

CADASIL with NOTCH3 S180C presenting anticipation of onset age and hallucinations.

Nakamura T et al.

Journal of the Neurological Sciences, 2005

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.

Opherk C et al.

Brain : a Journal of Neurology, 2004

Prolonged cerebral transit time in CADASIL: a transcranial ultrasound study.

Liebetrau M et al.

Stroke, 2002

Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study.

Dichgans M et al.

Stroke, 2002

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL.

Dichgans M et al.

Neurology, 2001

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.

Escary JL et al.

Human Mutation, 2000

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