Last Posted: May 16, 2023
- 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
- Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
Yamamoto Yumi, et al. Journal of clinical neurology (Seoul, Korea) 2023 0 (1) 12-27
- Association between NOTCH3 gene and Parkinson's disease based on whole-exome sequencing.
Zeng Qian, et al. Frontiers in aging neuroscience 2022 0 995330
- Keeping Quiet About Genetic Risk.
Susanna J Smith et al. Health affairs (Project Hope) 2023 3 (3) 443-447
- Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.
Di Donato Ilaria, et al. CNS neuroscience & therapeutics 2017 0 (9) 759-765
- MRI Lesion Load of Cerebral Small Vessel Disease and Cognitive Impairment in Patients With CADASIL.
Shi YuZhi, et al. Frontiers in neurology 2018 0 862
- The role of clinical and neuroimaging features in the diagnosis of CADASIL.
Bersano Anna, et al. Journal of neurology 2018 0 (12) 2934-2943
- Cognitive performance in asymptomatic carriers of mutations R1031C and R141C in CADASIL.
Zuluaga-Castaño Yesica, et al. International journal of psychological research 2020 0 (2) 46-55
- Analysis of gut microbiota in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Matsuura Jun, et al. Journal of clinical biochemistry and nutrition 2019 0 (3) 240-244
About Rare Diseases PHGKB
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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, 2023
- Page last updated:May 30, 2023
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