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The New England Journal of Medicine|November 20, 2009
A novel protective prion protein variant that colocalizes with kuru exposureSimon Mead, Jerome Whitfield, Mark Poulter, et al.Journal of Alzheimer'S Disease : JAD|July 4, 2025
Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157Leah Holm-Mercer, Tze How Mok, Danielle Sequeira, et al.Plos Pathogens|October 27, 2021
Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interferenceDaniel Heinzer, Merve Avar, Daniel Patrick Pease, et al.Neurology|April 3, 2016
Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromesIan T S Coyle-Gilchrist, Katrina M Dick, Karalyn Patterson, et al.Nature Clinical Practice. Neurology|July 24, 2008
Mapping the progression of progranulin-associated frontotemporal lobar degenerationJonathan D Rohrer, Jason D Warren, Josephine Barnes, et al.Neurobiology of Aging|May 19, 2009
No association of PGRN 3'UTR rs5848 in frontotemporal lobar degenerationSara Rollinson, Jonathan D Rohrer, Julie van der Zee, et al.Journal of Neuropathology and Experimental Neurology|August 22, 2008
First report of Creutzfeldt-Jakob disease occurring in 2 siblings unexplained by PRNP mutationThomas E F Webb, Suvankar Pal, Durrenajaf Siddique, et al.American Journal of Human Genetics|October 4, 2014
Ascertainment bias causes false signal of anticipation in genetic prion diseaseEric Vallabh Minikel, Inga Zerr, Steven J Collins, et al.JAMA Neurology|March 5, 2014
Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility studyGraham S Jackson, Jesse Burk-Rafel, Julie Ann Edgeworth, et al.Alzheimer'S & Dementia (Amsterdam, Netherlands)|April 6, 2019
ApoE4 lowers age at onset in patients with frontotemporal dementia and tauopathy independent of amyloid-β copathologyCarolin Koriath, Tammaryn Lashley, William Taylor, et al.Pageof 22