Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.G420C
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NOTCH3

NM_000435.3:p.G420C

Associated Papers

Mechanistic advances in factors influencing phenotypic variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a review.

Zhao Y et al.

Frontiers in Neurology, 2025

Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants.

Cheng YW et al.

Journal of the American Heart Association, 2023

37982214 (PubMed )
Supplement: JAH3-12-e032689-s001.pdf

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

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.

Juhosová M et al.

Neurogenetics, 2023

NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.

Almeida MR et al.

Neurogenetics, 2022

SQSTM1 gene as a potential genetic modifier of CADASIL phenotype.

Almeida MR et al.

Journal of Neurology, 2021

Intracerebral hemorrhage in CADASIL.

Palazzo P et al.

Revue Neurologique, 2021

Genotypic and Phenotypic Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy from China.

Zhang C et al.

European Neurology, 2021

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

Primary involvement of neurovascular coupling in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Jokumsen-Cabral A et al.

Journal of Neurology, 2019

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

[A cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy pedigree: clinical pathology, neuroimaging and molecular genetics studies].

Chang MZ et al.

Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2011

Acute confusional migraine may be a presenting feature of CADASIL.

Sathe S et al.

Headache, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

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

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.

Joutel A et al.

Lancet (london, England), 2001

[CADASIL: genetics and physiopathology].

Joutel A et al.

Bulletin De L'academie Nationale De Medecine, 2000

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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."