Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.C183S
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NOTCH3

NM_000435.3:p.C183S

Associated Papers

The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.

Guyler SK et al.

Genes, 2025

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.

Iruzubieta P et al.

Ebiomedicine, 2024

39191170 (PubMed )
Supplement: mmc6.xlsx › Hoja1

Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.

Al-Amrani F et al.

Pediatric Neurology, 2023

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.

Cheng S et al.

Cell Discovery, 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

Clinical and Genetic Aspects of CADASIL.

Mizuno T et al.

Frontiers in Aging Neuroscience, 2020

32457593 (PubMed )
Supplement: Table_1.DOCX

CADASIL affecting a black African man.

Vlok L et al.

Neurology. Genetics, 2018

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

Bianchi S et al.

Journal of Neurology, 2015

CADASIL and CARASIL.

Tikka S et al.

Brain Pathology (zurich, Switzerland), 2014

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

Homozygosity and severity of phenotypic presentation in a CADASIL family.

Vinciguerra C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a patient from Sri Lanka.

De Silva KR et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2009

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

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

Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Rufa A et al.

Stroke, 2005

Peripheral neuropathy in CADASIL.

Sicurelli F et al.

Journal of Neurology, 2005

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

The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Dotti MT et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2005

Characteristics of CADASIL in Chinese mainland patients.

Tan QC et al.

Neurology India, 0

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