Cadasil
What's New
Last Posted: Nov 27, 2023
- 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 - The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.
Si Cheng, et al. Cell discovery 2023 0 (1) 75 - Clinical and epidemiological profiles from a case series of 26 Brazilian CADASIL patients.
Renata Nogueira, et al. Arquivos de neuro-psiquiatria 2023 0 - NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.
Liao Yi-Chu, et al. Stroke 2023 0
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 19, 2024
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