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Page 1
MAPT S305I mutation: implications for argyrophilic grain disease.
Kovacs GG, Pittman A, Revesz T, Luk C, Lees A, Kiss E, Tariska P, Laszlo L, Molnár K, Molnar MJ, Tolnay M, de Silva R. Kovacs GG, et al. Acta Neuropathol. 2008 Jul;116(1):103-18. doi: 10.1007/s00401-007-0322-6. Epub 2007 Dec 8. Acta Neuropathol. 2008. PMID: 18066559
Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia.
Nimsanor N, Jørring I, Rasmussen MA, Clausen C, Mau-Holzmann UA, Kitiyanant N, Nielsen JE, Nielsen TT, Hyttel P, Holst B, Schmid B. Nimsanor N, et al. Stem Cell Res. 2016 Nov;17(3):564-567. doi: 10.1016/j.scr.2016.10.006. Epub 2016 Oct 20. Stem Cell Res. 2016. PMID: 27789411 Free article.
A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies.
Karch CM, Kao AW, Karydas A, Onanuga K, Martinez R, Argouarch A, Wang C, Huang C, Sohn PD, Bowles KR, Spina S, Silva MC, Marsh JA, Hsu S, Pugh DA, Ghoshal N, Norton J, Huang Y, Lee SE, Seeley WW, Theofilas P, Grinberg LT, Moreno F, McIlroy K, Boeve BF, Cairns NJ, Crary JF, Haggarty SJ, Ichida JK, Kosik KS, Miller BL, Gan L, Goate AM, Temple S; Tau Consortium Stem Cell Group. Karch CM, et al. Stem Cell Reports. 2019 Nov 12;13(5):939-955. doi: 10.1016/j.stemcr.2019.09.006. Epub 2019 Oct 17. Stem Cell Reports. 2019. PMID: 31631020 Free PMC article.
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.
Moore KM, Nicholas J, Grossman M, McMillan CT, Irwin DJ, Massimo L, Van Deerlin VM, Warren JD, Fox NC, Rossor MN, Mead S, Bocchetta M, Boeve BF, Knopman DS, Graff-Radford NR, Forsberg LK, Rademakers R, Wszolek ZK, van Swieten JC, Jiskoot LC, Meeter LH, Dopper EG, Papma JM, Snowden JS, Saxon J, Jones M, Pickering-Brown S, Le Ber I, Camuzat A, Brice A, Caroppo P, Ghidoni R, Pievani M, Benussi L, Binetti G, Dickerson BC, Lucente D, Krivensky S, Graff C, Öijerstedt L, Fallström M, Thonberg H, Ghoshal N, Morris JC, Borroni B, Benussi A, Padovani A, Galimberti D, Scarpini E, Fumagalli GG, Mackenzie IR, Hsiung GR, Sengdy P, Boxer AL, Rosen H, Taylor JB, Synofzik M, Wilke C, Sulzer P, Hodges JR, Halliday G, Kwok J, Sanchez-Valle R, Lladó A, Borrego-Ecija S, Santana I, Almeida MR, Tábuas-Pereira M, Moreno F, Barandiaran M, Indakoetxea B, Levin J, Danek A, Rowe JB, Cope TE, Otto M, Anderl-Straub S, de Mendonça A, Maruta C, Masellis M, Black SE, Couratier P, Lautrette G, Huey ED, Sorbi S, Nacmias B, Laforce R Jr, Tremblay ML, Vandenberghe R, Damme PV, Rogalski EJ, Weintraub S, Gerhard A, Onyike CU, Ducharme S, Papageorgiou SG, Ng ASL, Brodtmann A, Finger E, Guerreiro R, Bras J, Rohrer JD; FT… See abstract for full author list ➔ Moore KM, et al. Lancet Neurol. 2020 Feb;19(2):145-156. doi: 10.1016/S1474-4422(19)30394-1. Epub 2019 Dec 3. Lancet Neurol. 2020. PMID: 31810826 Free PMC article.
Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.
Ramos EM, Dokuru DR, Van Berlo V, Wojta K, Wang Q, Huang AY, Deverasetty S, Qin Y, van Blitterswijk M, Jackson J, Appleby B, Bordelon Y, Brannelly P, Brushaber DE, Dickerson B, Dickinson S, Domoto-Reilly K, Faber K, Fields J, Fong J, Foroud T, Forsberg LK, Gavrilova R, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Heuer HW, Hsiung GR, Huey E, Irwin D, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer JH, Kremers W, Kukull W, Litvan I, Ljubenkov P, Lungu C, Mackenzie I, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Shaw L, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wong B, Wszolek Z, Rademakers R, Boeve BF, Rosen HJ, Boxer AL; ARTFL/LEFFTDS consortium; Coppola G. Ramos EM, et al. Alzheimers Dement. 2020 Jan;16(1):118-130. doi: 10.1002/alz.12011. Alzheimers Dement. 2020. PMID: 31914217 Free PMC article.