Top-NOTCH3 Variants in the Population at Large
Author:
Affiliation:
1. Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom (R.N.K.).
2. Department of Neurology, University of Maryland School of Medicine and Baltimore VAMC (S.J.K.).
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Advanced and Specialized Nursing,Cardiology and Cardiovascular Medicine,Neurology (clinical)
Reference14 articles.
1. Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL
2. The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.;Rutten JW;Genet Med,2019
3. Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population
4. Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.;Rutten JW;Neurology,2020
5. Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease
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2. Pro‐Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property;Annals of Neurology;2024-03-23
3. Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review;Cerebral Circulation - Cognition and Behavior;2024
4. Current perspectives on prevention of vascular cognitive impairment and promotion of vascular brain health;Expert Review of Neurotherapeutics;2023-11-02
5. Polymorphisms of TRIB1 genes for coronary artery disease and stroke risk: A systematic review and meta-analysis;Gene;2023-09
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