Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C146Y
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NOTCH3

NM_000435.3:p.C146Y

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

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Jimenez-Ruiz A et al.

Stroke, 2022

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

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

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

Reduction of optic nerve fiber layer thickness in CADASIL.

Parisi V et al.

European Journal of Neurology, 2007

A chemical shift imaging study on regional metabolite distribution in a CADASIL family.

Macrì MA et al.

Magnetic Resonance Imaging, 2006

Peripheral neuropathy in CADASIL.

Sicurelli F et al.

Journal of Neurology, 2005

Early visual function impairment in CADASIL.

Parisi V et al.

Neurology, 2003

Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL.

Malandrini A et al.

Neurology, 2002

Early diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): the role of MRI.

Fattapposta F et al.

Functional Neurology, 0

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Guidetti D et al.

Clinical and Experimental Hypertension (new York, N.y. : 1993), 0

[Isolated diplopia as a form of presentation of CADASIL: presentation of a case].

Rodriguez-Pecci MS et al.

Neurologia (barcelona, Spain), 0

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