Last Posted: Jul 21, 2022
- Genetic counseling for prion disease: Updates and best practices.
Goldman Jill S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
- Genetic counseling for prion disease: Updates and best practice
JS Goldman, et al, Genetics in Medicine, July 12, 2022
- Estimation of the number of inherited prion disease mutation carriers in the UK.
Corbie Rosie et al. European journal of human genetics : EJHG 2022
- Human Prion Disease Surveillance in Washington State, 2006-2017.
Sánchez-González Liliana et al. JAMA network open 2020 Oct 3(10) e2020690
- Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study
E Jones et al, Lancet Neurology, October 2020
- Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease.
Kang Yoon-Jung et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2019 Mar
- The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients.
Gao Li-Ping et al. Scientific reports 2019 Feb 9(1) 1836
- Sensitivity and specificity evaluation of multiple neurodegenerative proteins for Creutzfeldt-Jakob disease diagnosis using a deep-learning approach.
Lee Sol Moe et al. Prion 2019 Jan 13(1) 141-150
- Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.
Clift Kristin et al. Prion 2016 Nov 10(6) 502-506
- Creutzfeldt-Jakob disease: updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy.
Manix Marc et al. Neurosurgical focus 2015 Nov (5) E2
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:Jun 02, 2023
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