Last Posted: Oct 28, 2022
- Genetic aspects of human prion diseases.
Appleby Brian S et al. Frontiers in neurology 2022 131003056 - 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 - Genetic prion disease: opportunities for early therapeutic intervention with rigorous pre-symptomatic trials.
Hermann Peter et al. Expert opinion on investigational drugs 2020 Oct - 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 - Towards a treatment for genetic prion disease: trials and biomarkers.
Vallabh Sonia M et al. The Lancet. Neurology 2020 Apr 19(4) 361-368 - The Married Researchers Racing to Stop Prion Disease
S Minikel Vallabh et al, Scientific American, March 2020 - Age at onset in genetic prion disease and the design of preventive clinical trials.
Minikel Eric Vallabh et al. Neurology 2019 93(2) e125-e134 - The Patient-Scientist's Mandate.
Vallabh Sonia M et al. The New England journal of medicine 2020 Jan (2) 107-109 - Prion disease incidence in the United States, 2003-2015.
Maddox Ryan A et al. Neurology 2019 Nov - Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.
Schwartz Mathias et al. Frontiers in genetics 2019 10895 - Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development.
Vallabh Sonia M et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Apr - One womans race to defuse the genetic time bomb in her genes
A Regalado, Tech Review, July 23, 2018 - Blood Tests for Prion Disease
Krisch JA. The Scientist, Dec 22, 2016. - 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 - The real-time quaking-induced conversion assay for detection of human prion disease and study of other protein misfolding diseases.
Schmitz Matthias et al. Nature protocols 2016 Nov (11) 2233-2242 - Quantifying prion disease penetrance using large population control cohorts.
Minikel Eric Vallabh et al. Science translational medicine 2016 Jan (322) 322ra9 - Prion Disease Induces Alzheimer Disease-Like Neuropathologic Changes.
Tousseyn Thomas et al. Journal of neuropathology and experimental neurology 2015 Sep (9) 873-88
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Disclaimer: Articles listed in the Public Health Genomics and Precision 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.