Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C174F
Back to variants list

NOTCH3

NM_000435.3:p.C174F

Associated Papers

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

A Japanese CADASIL kindred with a novel two-base NOTCH3 mutation.

Suda S et al.

European Journal of Neurology, 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

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Kim YE et al.

Neurobiology of Aging, 2014

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

[CADASIL].

Uchino M

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2008

Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.

Santa Y et al.

Journal of the Neurological Sciences, 2003

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan.

Uchino M

Internal Medicine (tokyo, Japan), 2001

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome.

Kotorii S et al.

Dementia and Geriatric Cognitive Disorders, 0

[Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene--association with alopecia and lumbar herniated disk].

Yamada H et al.

Rinsho Shinkeigaku = Clinical Neurology, 0

[A case of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and lekoencephalopathy) with Notch 3 (Arg169Cys) mutation and typical granular osmiophilic materials in peripheral small arteries].

Kotani N et al.

Rinsho Shinkeigaku = Clinical Neurology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."