Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C108S
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NOTCH3

NM_000435.3:p.C108S

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 and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

CADASIL: Ultrastructural insights into the morphology of granular osmiophilic material.

Lorenzi T et al.

Brain and Behavior, 2017

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Bianchi S et al.

Journal of Neurology, 2015

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

Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients.

Morroni M et al.

Plos One, 2013

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Testi S et al.

Journal of the Neurological Sciences, 2012

Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study.

Rufa A et al.

Cerebrovascular Diseases (basel, Switzerland), 2011

Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients.

Formichi P et al.

Journal of Cellular Physiology, 2009

Increased QT variability in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Piccirillo G et al.

European Journal of Neurology, 2008

Plasma levels of asymmetric dimethylarginine in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy.

Rufa A et al.

Cerebrovascular Diseases (basel, Switzerland), 2008

Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Rufa A et al.

Stroke, 2007

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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."