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Page 1
Conserved gene signatures shared among MAPT mutations reveal defects in calcium signaling.
Minaya MA, Mahali S, Iyer AK, Eteleeb AM, Martinez R, Huang G, Budde J, Temple S, Nana AL, Seeley WW, Spina S, Grinberg LT, Harari O, Karch CM. Minaya MA, et al. Among authors: spina s. Front Mol Biosci. 2023 Feb 9;10:1051494. doi: 10.3389/fmolb.2023.1051494. eCollection 2023. Front Mol Biosci. 2023. PMID: 36845551 Free PMC article.
A novel Alzheimer disease locus located near the gene encoding tau protein.
Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Laza AR, Zelenika D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox NC, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH Jr, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, de Bruijn RF, Tzourio C, Pastor P, Larson EB, Rotter JI, O'Donovan MC, Montine TJ, Nalls MA, Mead S, Reiman EM, Jonsson PV, Holmes C, St George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K, Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JS, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L; IGAP Consortium; Haines JL, Psaty BM, Van … See abstract for full author list ➔ Jun G, et al. Mol Psychiatry. 2016 Jan;21(1):108-17. doi: 10.1038/mp.2015.23. Epub 2015 Mar 17. Mol Psychiatry. 2016. PMID: 25778476 Free PMC article.
Frontotemporal dementia with the V337M MAPT mutation: Tau-PET and pathology correlations.
Spina S, Schonhaut DR, Boeve BF, Seeley WW, Ossenkoppele R, O'Neil JP, Lazaris A, Rosen HJ, Boxer AL, Perry DC, Miller BL, Dickson DW, Parisi JE, Jagust WJ, Murray ME, Rabinovici GD. Spina S, et al. Neurology. 2017 Feb 21;88(8):758-766. doi: 10.1212/WNL.0000000000003636. Epub 2017 Jan 27. Neurology. 2017. PMID: 28130473 Free PMC article.
Globular glial tauopathy presenting as non-fluent/agrammatic variant primary progressive aphasia with chorea.
Kim EJ, Lee MJ, Lee JH, Lee YM, Shin JH, Shin MJ, Choi KU, Jung NY, Pak K, Hwang C, Ahn JW, Sung S, Spina S, Grinberg LT, Seeley WW, Huh GY. Kim EJ, et al. Among authors: spina s. Parkinsonism Relat Disord. 2017 Nov;44:159-161. doi: 10.1016/j.parkreldis.2017.09.006. Epub 2017 Sep 6. Parkinsonism Relat Disord. 2017. PMID: 28923295 Free PMC article. No abstract available.
Advancing functional dysconnectivity and atrophy in progressive supranuclear palsy.
Brown JA, Hua AY, Trujllo A, Attygalle S, Binney RJ, Spina S, Lee SE, Kramer JH, Miller BL, Rosen HJ, Boxer AL, Seeley WW. Brown JA, et al. Among authors: spina s. Neuroimage Clin. 2017 Sep 12;16:564-574. doi: 10.1016/j.nicl.2017.09.008. eCollection 2017. Neuroimage Clin. 2017. PMID: 28951832 Free PMC article.
ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy.
Shi Y, Yamada K, Liddelow SA, Smith ST, Zhao L, Luo W, Tsai RM, Spina S, Grinberg LT, Rojas JC, Gallardo G, Wang K, Roh J, Robinson G, Finn MB, Jiang H, Sullivan PM, Baufeld C, Wood MW, Sutphen C, McCue L, Xiong C, Del-Aguila JL, Morris JC, Cruchaga C; Alzheimer’s Disease Neuroimaging Initiative; Fagan AM, Miller BL, Boxer AL, Seeley WW, Butovsky O, Barres BA, Paul SM, Holtzman DM. Shi Y, et al. Among authors: spina s. Nature. 2017 Sep 28;549(7673):523-527. doi: 10.1038/nature24016. Epub 2017 Sep 20. Nature. 2017. PMID: 28959956 Free PMC article.
18 F-flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study.
Schonhaut DR, McMillan CT, Spina S, Dickerson BC, Siderowf A, Devous MD Sr, Tsai R, Winer J, Russell DS, Litvan I, Roberson ED, Seeley WW, Grinberg LT, Kramer JH, Miller BL, Pressman P, Nasrallah I, Baker SL, Gomperts SN, Johnson KA, Grossman M, Jagust WJ, Boxer AL, Rabinovici GD. Schonhaut DR, et al. Among authors: spina s. Ann Neurol. 2017 Oct;82(4):622-634. doi: 10.1002/ana.25060. Ann Neurol. 2017. PMID: 28980714 Free PMC article.
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D,… See abstract for full author list ➔ Pottier C, et al. Among authors: spina s. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30. Lancet Neurol. 2018. PMID: 29724592 Free PMC article.
284 results