Results 1 to 12 of 12
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TypeTitleAuthor(s)YearViews
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer diseaseRogaeva, E; Meng, Y; Lee, JH; Gu, Y; Kawarai, T; Zou, F; Katayama, T; Baldwin, CT; Cheng, R; Hasegawa, H; Chen, F; Shibata, N; Lunetta, KL; PardossiPiquard, R; Bohm, C; Wakutani, Y; Cupples, LA; Cuenco, KT; Green, RC; Pinessi, L; Rainero, I; Sorbi, S; Bruni, A; Duara, R; Friedland, RP; Inzelberg, R; Hampe, W; Bujo, H; Song, YQ; Andersen, OM; Willnow, TE; GraffRadford, N; Petersen, RC; Dickson, D; Der, SD; Fraser, PE; SchmittUlms, G; Younkin, S; Mayeux, R; Farrer, LA; St GeorgeHyslop, P2007105
 
Alleles at the Nicastrin locus modify presenilin 1-deficiency phenotypeRozmahel, R; Mount, HTJ; Chen, F; Nguyen, V; Huang, J; Erdebil, S; Liauw, J; Yu, G; Hasegawa, H; Gu, Y; Song, YQ; Schmidt, SD; Nixon, RA; Mathews, PM; Bergeron, C; Fraser, P; Westaway, D; St GeorgeHyslop, P2002118
 
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic familiesAthan, ES; Williamson, J; Ciappa, A; Santana, V; Romas, SN; Lee, JH; Rondon, H; Lantigua, RA; Medrano, M; Torres, M; Arawaka, S; Rogaeva, E; Song, YQ; Sato, C; Kawarai, T; Fafel, KC; Boss, MA; Seltzer, WK; Stern, Y; St GeorgeHyslop, P; Tycko, B; Mayeux, R2001122
 
Screening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutationsRogaeva, EA; Fafel, KC; Song, YQ; Medeiros, H; Sato, C; Liang, Y; Richard, E; Rogaev, EI; Frommelt, P; Sadovnick, AD; Meschino, W; Rockwood, K; Boss, MA; Mayeux, R; St GeorgeHyslop, P2001110
 
Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's diseaseNicolaou, M; Song, YQ; Sato, CA; Orlacchio, A; Kawarai, T; Medeiros, H; Liang, Y; Sorbi, S; Richard, E; Rogaev, EI; Moliaka, Y; Bruni, AC; Jorge, R; Percy, M; Duara, R; Farrer, LA; St GeorgeHyslop, P; Rogaeva, EA200198
 
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer diseaseDevi, G; Fotiou, A; Jyrinji, D; Tycko, B; DeArmand, S; Rogaeva, E; Song, YQ; Medieros, H; Liang, Y; Orlacchio, A; Williamson, J; St GeorgeHyslop, P; Mayeux, R2000121
 
Carboxyl-terminal fragments of alzheimer β-amlyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cellsChen, F; Yang, DS; Petanceska, S; Yang, A; Tandon, A; Yu, G; Rozmahel, R; Ghiso, J; Nishimura, M; Zhang, DM; Kawarai, T; Levesque, G; Mills, J; Levesque, L; Song, YQ; Rogaeva, E; Westaway, D; Mount, H; Gandy, S; St GeorgeHyslop, P; Fraser, PE2000140
 
Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexesYu, G; Chen, F; Nishimura, M; Steiner, H; Tandon, A; Kawarai, T; Arawaka, S; Supala, A; Song, YQ; Rogaeva, E; Holmes, E; Zhang, DM; Milman, P; Fraser, P; Haass, C; St GeorgeHyslop, P2000118
 
Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexesYu, G; Chen, F; Nishimura, M; Steiner, H; Tandon, A; Kawarai, T; Arawaka, S; Supala, A; Song, YQ; Rogaeva, E; Holmes, E; Zhang, DM; Milman, P; Fraser, PE; Haass, C; St GeorgeHyslop, P2000142
 
Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased Aβ42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegansDong Mei Zhang; Levitan, D; Yu, G; Nishimura, M; Chen, F; Tandon, A; Kawarai, T; Arawaka, S; Supala, A; Song, YQ; Rogaeva, E; Liang, Y; Holmes, E; Milman, P; Sato, C; Zhang, L; St GeorgeHyslop, P2000121
 
Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOESong, YQ; Rogaeva, E; Premkumar, S; Brindle, N; Kawarai, T; Orlacchio, A; Yu, G; Levesque, G; Nishimura, M; Ikeda, M; Pei, Y; O'Toole, C; Duara, R; Barker, W; Sorbi, S; Freedman, M; Farrer, L; St GeorgeHyslop, P1998131
 
Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer diseaseBrindle, N; Song, Y; Rogaeva, E; Premkumar, S; Levesque, G; Yu, G; Ikeda, M; Nishimura, M; Paterson, A; Sorbi, S; Duara, R; Farrer, L; St GeorgeHyslop, P1998111
 
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