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Page 1
Modeling autosomal dominant Alzheimer's disease with machine learning.
Luckett PH, McCullough A, Gordon BA, Strain J, Flores S, Dincer A, McCarthy J, Kuffner T, Stern A, Meeker KL, Berman SB, Chhatwal JP, Cruchaga C, Fagan AM, Farlow MR, Fox NC, Jucker M, Levin J, Masters CL, Mori H, Noble JM, Salloway S, Schofield PR, Brickman AM, Brooks WS, Cash DM, Fulham MJ, Ghetti B, Jack CR Jr, Vöglein J, Klunk W, Koeppe R, Oh H, Su Y, Weiner M, Wang Q, Swisher L, Marcus D, Koudelis D, Joseph-Mathurin N, Cash L, Hornbeck R, Xiong C, Perrin RJ, Karch CM, Hassenstab J, McDade E, Morris JC, Benzinger TLS, Bateman RJ, Ances BM; Dominantly Inherited Alzheimer Network (DIAN). Luckett PH, et al. Among authors: schofield pr. Alzheimers Dement. 2021 Jun;17(6):1005-1016. doi: 10.1002/alz.12259. Epub 2021 Jan 21. Alzheimers Dement. 2021. PMID: 33480178 Free PMC article.
Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.
Kwok JB, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, St George Hyslop PH, Fraser PE, Kakulas B, Clarnette R, Relkin N, Gandy SE, Schofield PR, Martins RN. Kwok JB, et al. Among authors: schofield pr. Neuroreport. 1997 Apr 14;8(6):1537-42. doi: 10.1097/00001756-199704140-00043. Neuroreport. 1997. PMID: 9172170
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Smith MJ, Kwok JB, McLean CA, Kril JJ, Broe GA, Nicholson GA, Cappai R, Hallupp M, Cotton RG, Masters CL, Schofield PR, Brooks WS. Smith MJ, et al. Among authors: schofield pr. Ann Neurol. 2001 Jan;49(1):125-9. doi: 10.1002/1531-8249(200101)49:1<125::aid-ana21>3.0.co;2-1. Ann Neurol. 2001. PMID: 11198283
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.
Kwok JB, Halliday GM, Brooks WS, Dolios G, Laudon H, Murayama O, Hallupp M, Badenhop RF, Vickers J, Wang R, Naslund J, Takashima A, Gandy SE, Schofield PR. Kwok JB, et al. Among authors: schofield pr. J Biol Chem. 2003 Feb 28;278(9):6748-54. doi: 10.1074/jbc.M211827200. Epub 2002 Dec 19. J Biol Chem. 2003. PMID: 12493737 Free article.
484 results