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Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Joseph-Mathurin N, Feldman RL, Lu R, Shirzadi Z, Toomer C, Saint Clair JR, Ma Y, McKay NS, Strain JF, Kilgore C, Friedrichsen KA, Chen CD, Gordon BA, Chen G, Hornbeck RC, Massoumzadeh P, McCullough AA, Wang Q, Li Y, Wang G, Keefe SJ, Schultz SA, Cruchaga C, Preboske GM, Jack CR Jr, Llibre-Guerra JJ, Allegri RF, Ances BM, Berman SB, Brooks WS, Cash DM, Day GS, Fox NC, Fulham M, Ghetti B, Johnson KA, Jucker M, Klunk WE, la Fougère C, Levin J, Niimi Y, Oh H, Perrin RJ, Reischl G, Ringman JM, Saykin AJ, Schofield PR, Su Y, Supnet-Bell C, Vöglein J, Yakushev I, Brickman AM, Morris JC, McDade E, Xiong C, Bateman RJ, Chhatwal JP, Benzinger TLS; Dominantly Inherited Alzheimer Network. Joseph-Mathurin N, et al. Alzheimers Dement. 2024 Apr;20(4):2680-2697. doi: 10.1002/alz.13729. Epub 2024 Feb 21. Alzheimers Dement. 2024. PMID: 38380882 Free PMC article.
Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional and longitudinal cohort study.
Quiroz YT, Zetterberg H, Reiman EM, Chen Y, Su Y, Fox-Fuller JT, Garcia G, Villegas A, Sepulveda-Falla D, Villada M, Arboleda-Velasquez JF, Guzmán-Vélez E, Vila-Castelar C, Gordon BA, Schultz SA, Protas HD, Ghisays V, Giraldo M, Tirado V, Baena A, Munoz C, Rios-Romenets S, Tariot PN, Blennow K, Lopera F. Quiroz YT, et al. Lancet Neurol. 2020 Jun;19(6):513-521. doi: 10.1016/S1474-4422(20)30137-X. Epub 2020 May 26. Lancet Neurol. 2020. PMID: 32470423 Free PMC article.