Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Diagnostics (Basel, Switzerland)
Bagyinszky, Eva E; Lee, Hyon H; Pyun, Jung Min JM; Suh, Jeewon J; Kang, Min Ju MJ; Vo, Van Giau VG; An, Seong Soo A SSA; Park, Kee Hyung KH; Kim, SangYun S
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Genetic screen in a large series of patients with primary progressive aphasia.
Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association
Ramos, Eliana Marisa EM; Dokuru, Deepika Reddy DR; Van Berlo, Victoria V; Wojta, Kevin K; Wang, Qing Q; Huang, Alden Y AY; Miller, Zachary A ZA; Karydas, Anna M AM; Bigio, Eileen H EH; Rogalski, Emily E; Weintraub, Sandra S; Rader, Benjamin B; Miller, Bruce L BL; Gorno-Tempini, Maria Luisa ML; Mesulam, Marek-Marsel MM; Coppola, Giovanni G
Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.
Journal Of Alzheimer'S Disease : Jad
Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Current Neurology And Neuroscience Reports
Ringman, John M JM; Goate, Alison A; Masters, Colin L CL; Cairns, Nigel J NJ; Danek, Adrian A; Graff-Radford, Neill N; Ghetti, Bernardino B; Morris, John C JC; ,