Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C251Y
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NOTCH3

NM_000435.3:p.C251Y

Associated Papers

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

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 features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Bersano A et al.

Journal of Neurology, 2018

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

Chen S et al.

Cns Neuroscience & Therapeutics, 2017

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Bersano A et al.

Stroke, 2016

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

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Mosca L et al.

Journal of the Neurological Sciences, 2011

New information on the genetics of stroke.

Meschia JF

Current Neurology and Neuroscience Reports, 2011

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.

Shahien R et al.

Neuropsychiatric Disease and Treatment, 2011

Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation.

Mykkänen K et al.

Stroke, 2009

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

Tikka S et al.

Brain : a Journal of Neurology, 2009

Impaired endothelial function of forearm resistance arteries in CADASIL patients.

Stenborg A et al.

Stroke, 2007

Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family.

Adair JC et al.

Neuropsychiatry, Neuropsychology, and Behavioral Neurology, 1998

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