Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.Y1021C
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NOTCH3

NM_000435.3:p.Y1021C

Associated Papers

Comorbidity Between Recurrent Major Depressive Disorder and CADASIL: A Case Report With a Brief Review of Published Cases.

Wang YM et al.

Clinical Case Reports, 2025

Bilateral Middle Cerebellar Peduncle Sign in a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy and Coronavirus Disease 2019.

Mitsutake A et al.

Internal Medicine (tokyo, Japan), 2025

Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.

Ishiyama H et al.

Annals of Neurology, 2024

38520151 (PubMed )
Supplement: supplement_1.docx

Border-Zone Cerebral Infarcts Associated with COVID-19 in CADASIL: A Report of 3 Cases and Literature Review.

Aghetti A et al.

Cerebrovascular Diseases Extra, 2024

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

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.

Uemura M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

36261288 (PubMed )
Supplement: jnnp-2022-329917supp001.pdf

Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL.

Ueda A et al.

Frontiers in Neurology, 2022

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients.

Hu Y et al.

Frontiers in Genetics, 2021

Acute Stroke as the Presenting Symptom of SARS-CoV-2 Infection in a Young Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Trifan G et al.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2020

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

32457593 (PubMed )
Supplement: Table_1.DOCX

Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients.

Nannucci S et al.

Plos One, 2018

29370179 (PubMed )
Supplement: pone.0190878.s001.xls › CMB_database

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.

Wiel L et al.

Human Mutation, 2017

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

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

Acetazolamide for the prophylaxis of migraine in CADASIL: a preliminary experience.

Donnini I et al.

The Journal of Headache and Pain, 2012

High lipoprotein(a) serum levels in three CADASIL families.

Valenti R et al.

Journal of Neurology, 2012

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Mosca L et al.

Journal of the Neurological Sciences, 2011

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

Rufa A et al.

Cerebrovascular Diseases (basel, Switzerland), 2011

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

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

Piccirillo G et al.

European Journal of Neurology, 2008

The spectrum of mutations for CADASIL diagnosis.

Federico A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."