Characteristics of Chinese patients with genetic CJD who have E196A or E196K mutation in PRNP: comparative analysis of patients identified in the Chinese National CJD Surveillance System.
Bmj Open
Shi, Qi Q; Xiao, Kang K; Chen, Cao C; Zhou, Wei W; Gao, Li-Ping LP; Wu, Yue-Zhang YZ; Wang, Yuan Y; Hu, Chao C; Gao, Chen C; Dong, Xiao-Ping XP
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Takada, Leonel T LT; Kim, Mee-Ohk MO; Cleveland, Ross W RW; Wong, Katherine K; Forner, Sven A SA; Gala, Ignacio Illán II; Fong, Jamie C JC; Geschwind, Michael D MD
Quantifying prion disease penetrance using large population control cohorts.
Science Translational Medicine
Minikel, Eric Vallabh EV; Vallabh, Sonia M SM; Lek, Monkol M; Estrada, Karol K; Samocha, Kaitlin E KE; Sathirapongsasuti, J Fah JF; McLean, Cory Y CY; Tung, Joyce Y JY; Yu, Linda P C LP; Gambetti, Pierluigi P; Blevins, Janis J; Zhang, Shulin S; Cohen, Yvonne Y; Chen, Wei W; Yamada, Masahito M; Hamaguchi, Tsuyoshi T; Sanjo, Nobuo N; Mizusawa, Hidehiro H; Nakamura, Yosikazu Y; Kitamoto, Tetsuyuki T; Collins, Steven J SJ; Boyd, Alison A; Will, Robert G RG; Knight, Richard R; Ponto, Claudia C; Zerr, Inga I; Kraus, Theo F J TF; Eigenbrod, Sabina S; Giese, Armin A; Calero, Miguel M; de Pedro-Cuesta, Jesús J; Haïk, Stéphane S; Laplanche, Jean-Louis JL; Bouaziz-Amar, Elodie E; Brandel, Jean-Philippe JP; Capellari, Sabina S; Parchi, Piero P; Poleggi, Anna A; Ladogana, Anna A; O'Donnell-Luria, Anne H AH; Karczewski, Konrad J KJ; Marshall, Jamie L JL; Boehnke, Michael M; Laakso, Markku M; Mohlke, Karen L KL; Kähler, Anna A; Chambert, Kimberly K; McCarroll, Steven S; Sullivan, Patrick F PF; Hultman, Christina M CM; Purcell, Shaun M SM; Sklar, Pamela P; van der Lee, Sven J SJ; Rozemuller, Annemieke A; Jansen, Casper C; Hofman, Albert A; Kraaij, Robert R; van Rooij, Jeroen G J JG; Ikram, M Arfan MA; Uitterlinden, André G AG; van Duijn, Cornelia M CM; , ; Daly, Mark J MJ; MacArthur, Daniel G DG