Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C251R
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NOTCH3

NM_000435.3:p.C251R

Associated Papers

Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.

Yang Z et al.

Journal of Magnetic Resonance Imaging : Jmri, 2026

40838861 (PubMed )
Supplement: JMRI-63-157-s001.pdf

SNP and Structural Study of the Notch Superfamily Provides Insights and Novel Pharmacological Targets against the CADASIL Syndrome and Neurodegenerative Diseases.

Papageorgiou L et al.

Genes, 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

Elderly CADASIL patients with intact neurological status.

Zhang R et al.

Journal of Stroke, 2022

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

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.

Chen S et al.

Cns Neuroscience & Therapeutics, 2017

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

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

A novel CADASIL-causing mutation in a stroke patient.

Vikelis M et al.

Swiss Medical Weekly, 2007

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

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.

Singhal S et al.

Brain : a Journal of Neurology, 2004

Diagnostic strategies in CADASIL.

Markus HS et al.

Neurology, 2002

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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."