Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R544C
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NOTCH3

NM_000435.3:p.R544C

Associated Papers

Corrigendum to "NOTCH3 p.R544C variant in vascular Parkinsonism: Clinical and imaging correlates in a Taiwanese cohort" [Parkinsonism & Related Disorders 139 (2025) 6 6 107997].

Sung YF et al.

Parkinsonism & Related Disorders, 2026

Genetic testing for adult-onset neurodegenerative diseases: A clinical perspective.

Lee NC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2026

Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.

Hou W et al.

Annals of Neurosciences, 2026

Comparison of clinical and imaging features of cerebral small vessel disease associated with heterozygous HTRA1 and NOTCH3 mutations.

Lee YC et al.

International Journal of Stroke : Official Journal of the International Stroke Society, 2026

Assessment of Small Vessel Density Changes in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalophy (CADASIL) by High-Resolution Black-Blood MRI.

Yang Z et al.

Journal of Magnetic Resonance Imaging : Jmri, 2026

40838861 (PubMed )
Supplement: JMRI-63-157-s001.pdf

Simple MRI Lesion Levels Improve Two-Year Prognostic Accuracy Beyond Clinical History in CADASIL.

Zhang R et al.

Stroke, 2025

Reduced SUMOylation impairs NOTCH3 signaling and cell survival in the pathogenesis of CADASIL.

Long L et al.

Cell Communication and Signaling : Ccs, 2025

Serum NOTCH3 Extracellular Domain in Patients With CADASIL.

Kim H et al.

Neurology. Genetics, 2025

[Geographic Distribution of Patients with CADASIL in Japan].

Mukai M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary

The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.

Guyler SK et al.

Genes, 2025

41300806 (PubMed )
Supplement: genes-16-01353-s001.zip › genes-3932398-supplementary.pdf

Comorbidity Between Recurrent Major Depressive Disorder and CADASIL: A Case Report With a Brief Review of Published Cases.

Wang YM et al.

Clinical Case Reports, 2025

Association between ischemic stroke, hemorrhagic stroke, dementia, and rs201118034 among general Taiwanese population.

Liaw YC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Macular vessel density is associated with cognitive function in preclinical p.R544C NOTCH3 mutation carriers: Erratum.

Chou CC et al.

Journal of the Chinese Medical Association : Jcma, 2025

Genetic Etiology of Epilepsy: A Retrospective Study From a Single-Center Cohort.

Li Y et al.

Clinical Genetics, 2025

NOTCH3 p.R544C variant in vascular Parkinsonism: Clinical and imaging correlates in a Taiwanese cohort.

Sung YF et al.

Parkinsonism & Related Disorders, 2025

Vascular NOTCH3 Deposition Load: Association With NOTCH3 Genotype and CADASIL Disease Severity.

Cheng YW et al.

Neurology. Genetics, 2025

Commissural Fiber Disruption Is Associated With Symptom Onset in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Hsu SL et al.

Journal of the American Heart Association, 2025

ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.

Zhang L et al.

Bmc Oral Health, 2025

40841909 (PubMed )
Supplement: 12903_2025_6717_MOESM2_ESM.xlsx › Sheet1

Analyses of NOTCH3 variants in Chinese patients with clinically diagnosed Alzheimer's disease and frontotemporal dementia.

Nan H et al.

Alzheimer's Research & Therapy, 2025

Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.

McGlasson S et al.

Brain : a Journal of Neurology, 2025

40476824 (PubMed )
Supplement: awaf085_supplementary_data.pdf

Macular vessel density is associated with cognitive function in preclinical p.R544C NOTCH3 mutation carriers.

Chou CC et al.

Journal of the Chinese Medical Association : Jcma, 2025

Meningeal lymphatic dysfunction in sporadic cerebral small vessel diseases and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by DCE-MRI.

Wang H et al.

Quantitative Imaging in Medicine and Surgery, 2025

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.

Cerfontaine MN et al.

Annals of Neurology, 2025

Intracerebral Hemorrhage in Patients With CADASIL: Additive Impact of the NOTCH3 R544C Variant and Hypertension?

Chen CH et al.

Stroke, 2025

Intracranial Large Artery Involvement in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Tale of Two Genes?

Zedde M et al.

Genes, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary

Genetic Architecture of Ischemic Stroke: Insights from Genome-Wide Association Studies and Beyond.

Jagodic A et al.

Journal of Cardiovascular Development and Disease, 2025

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL.

Men X et al.

Annals of Clinical and Translational Neurology, 2025

Prevalence and Characteristics of Pathogenic Variants in Taiwanese Patients With Cerebral Small Vessel Disease.

Cheng YW et al.

Neurology. Genetics, 2025

Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.

Bao J et al.

Biomedicines, 2025

40427062 (PubMed )
Supplement: biomedicines-13-01235-s001.zip › Supplement_Table_S8.xlsx › PART1

Genetic and imaging features of CADASIL patients with acute ischemic stroke.

Park JY et al.

Scientific Reports, 2025

Peripapillary vessel wall changes correlate with disease severity in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Chi SC et al.

Journal of the Neurological Sciences, 2025

Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review.

Geng Y et al.

The Neurologist, 2025

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.

Is migraine a common manifestation of CADASIL? Arguments Pros.

Chabriat H

The Journal of Headache and Pain, 2025

Is migraine a common manifestation of CADASIL-Cons.

Wang YF

The Journal of Headache and Pain, 2025

Intracerebral hemorrhage in CADASIL.

Hsu SL et al.

Journal of the Chinese Medical Association : Jcma, 2025

Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Hu F et al.

European Journal of Neurology, 2025

Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL.

Gravesteijn G et al.

Jama Neurology, 2025

Parkinsonism in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Clinical Features and Biomarkers.

Chen CH et al.

Journal of Stroke, 2025

Prevalence of Genetic Variants Causing Mendelian Stroke Among 15,548 Koreans Without Neurological Disorders.

Yang JO et al.

Journal of Stroke, 2025

Genetic epidemiology of moyamoya disease and CADASIL in over 120,000 healthy Korean individuals: Insights into cerebrovascular disorders.

Cho EH et al.

Plos One, 2025

CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.

Wang Y et al.

Frontiers in Neurology, 2025

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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."