Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C108R
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NOTCH3

NM_000435.3:p.C108R

Associated Papers

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

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

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

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

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

Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old.

Benabu Y et al.

Pediatric Radiology, 2013

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

Wang Z et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2011

Report of two Chinese families and a review of Mainland Chinese CADASIL patients.

Yin XZ et al.

Journal of the Neurological Sciences, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

[NOTCH3 gene mutations in four Chinese families with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].

Wang ZX et al.

Zhonghua Yi Xue Za Zhi, 2004

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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."