Cadasil
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Last Posted: Oct 14, 2024
- White Matter Hyperintensities and Cognitive Functions in People With the R544C Variant of the NOTCH3 Gene Without Stroke or Dementia.
Hsin Tung, et al. Neurology 2024 0 (9) e209941 - Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review.
Georgina Boston, et al. Cerebral circulation - cognition and behavior 2024 0 100227 - The Roles of NOTCH3 p.R544C and Thrombophilia Genes in Vietnamese Patients With Ischemic Stroke: Study Involving a Hierarchical Cluster Analysis.
Huong Thi Thu Bui, et al. JMIR bioinformatics and biotechnology 2024 0 e56884 - Contribution of the APOE Genotype to Cognitive Impairment in Individuals With NOTCH3 Cysteine-Altering Variants.
Yu-Wen Cheng, et al. Journal of the American Heart Association 2023 0 e032689 - Broadening the Genetic Horizons of CADASIL: New Variants of the NOTCH3 Gene Revealed and their Association with CADASIL.
Biswamohan Mishra, et al. Annals of Indian Academy of Neurology 2023 0 (4) 356-358 - NOTCH3 Variants in Patients with Suspected CADASIL.
Orhan Gorukmez, et al. Annals of Indian Academy of Neurology 2023 0 (4) 484-490 - Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation.
Jun Takei, et al. Frontiers in neurology 2023 0 1241678 - [Neuroimaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Korean Based on Jeju Cohort: A Pictorial Essay].
Yeh Rin Suh, et al. Journal of the Korean Society of Radiology 2023 0 (4) 855-865 - The cysteine-altering p.R544C variant in the NOTCH3 gene is a probable candidate for blood pressure and relevant traits in the Taiwan Biobank.
Eugene Lin, et al. Journal of neurology 2023 0 - Modifiable Vascular Risk Factors Contribute to Stroke in 1,080 NOTCH3 R544C Carriers in Taiwan Biobank.
Hung-Jen Lin, et al. International journal of stroke : official journal of the International Stroke Society 2023 0 17474930231191991
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Page last reviewed:Feb 1, 2024
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