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
Amyloid polymorphisms constitute distinct clouds of conformational variants in different etiological subtypes of Alzheimer's disease.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Rasmussen, Jay J; Mahler, Jasmin J; Beschorner, Natalie N; Kaeser, Stephan A SA; Häsler, Lisa M LM; Baumann, Frank F; Nyström, Sofie S; Portelius, Erik E; Blennow, Kaj K; Lashley, Tammaryn T; Fox, Nick C NC; Sepulveda-Falla, Diego D; Glatzel, Markus M; Oblak, Adrian L AL; Ghetti, Bernardino B; Nilsson, K Peter R KPR; Hammarström, Per P; Staufenbiel, Matthias M; Walker, Lary C LC; Jucker, Mathias M
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; ,
Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.
American Journal Of Neurodegenerative Disease
Roher, Alex E AE; Maarouf, Chera L CL; Malek-Ahmadi, Michael M; Wilson, Jeffrey J; Kokjohn, Tyler A TA; Daugs, Ian D ID; Whiteside, Charisse M CM; Kalback, Walter M WM; Macias, Mimi P MP; Jacobson, Sandra A SA; Sabbagh, Marwan N MN; Ghetti, Bernardino B; Beach, Thomas G TG
Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.
Molecular Neurodegeneration
Maarouf, Chera L CL; Daugs, Ian D ID; Spina, Salvatore S; Vidal, Ruben R; Kokjohn, Tyler A TA; Patton, R Lyle RL; Kalback, Walter M WM; Luehrs, Dean C DC; Walker, Douglas G DG; Castaño, Eduardo M EM; Beach, Thomas G TG; Ghetti, Bernardino B; Roher, Alex E AE
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
American Journal Of Human Genetics
Finckh, U U; Müller-Thomsen, T T; Mann, U U; Eggers, C C; Marksteiner, J J; Meins, W W; Binetti, G G; Alberici, A A; Hock, C C; Nitsch, R M RM; Gal, A A