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Disease-specific selective vulnerability and neuroimmune pathways in dementia revealed by single cell genomics.
Rexach JE, Cheng Y, Chen L, Polioudakis D, Lin LC, Mitri V, Elkins A, Yin A, Calini D, Kawaguchi R, Ou J, Huang J, Williams C, Robinson J, Gaus SE, Spina S, Lee EB, Grinberg LT, Vinters H, Trojanowski JQ, Seeley WW, Malhotra D, Geschwind DH. Rexach JE, et al. Among authors: spina s. bioRxiv [Preprint]. 2023 Sep 30:2023.09.29.560245. doi: 10.1101/2023.09.29.560245. bioRxiv. 2023. Update in: Cell. 2024 Oct 3;187(20):5753-5774.e28. doi: 10.1016/j.cell.2024.08.019 PMID: 37808727 Free PMC article. Updated. Preprint.
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Geier EG, Bourdenx M, Storm NJ, Cochran JN, Sirkis DW, Hwang JH, Bonham LW, Ramos EM, Diaz A, Van Berlo V, Dokuru D, Nana AL, Karydas A, Balestra ME, Huang Y, Russo SP, Spina S, Grinberg LT, Seeley WW, Myers RM, Miller BL, Coppola G, Lee SE, Cuervo AM, Yokoyama JS. Geier EG, et al. Among authors: spina s. Acta Neuropathol. 2019 Jan;137(1):71-88. doi: 10.1007/s00401-018-1925-9. Epub 2018 Oct 31. Acta Neuropathol. 2019. PMID: 30382371 Free PMC article.
Primary progressive aphasia and the FTD-MND spectrum disorders: clinical, pathological, and neuroimaging correlates.
Vinceti G, Olney N, Mandelli ML, Spina S, Hubbard HI, Santos-Santos MA, Watson C, Miller ZA, Lomen-Hoerth C, Nichelli P, Miller BL, Grinberg LT, Seeley WW, Gorno-Tempini ML. Vinceti G, et al. Among authors: spina s. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):146-158. doi: 10.1080/21678421.2018.1556695. Epub 2019 Jan 22. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30668155 Free PMC article.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, D… See abstract for full author list ➔ Pottier C, et al. Among authors: spina s. Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9. Acta Neuropathol. 2019. PMID: 30739198 Free PMC article.
Alzheimer's disease clinical variants show distinct regional patterns of neurofibrillary tangle accumulation.
Petersen C, Nolan AL, de Paula França Resende E, Miller Z, Ehrenberg AJ, Gorno-Tempini ML, Rosen HJ, Kramer JH, Spina S, Rabinovici GD, Miller BL, Seeley WW, Heinsen H, Grinberg LT. Petersen C, et al. Among authors: spina s. Acta Neuropathol. 2019 Oct;138(4):597-612. doi: 10.1007/s00401-019-02036-6. Epub 2019 Jun 27. Acta Neuropathol. 2019. PMID: 31250152 Free PMC article.
Profound degeneration of wake-promoting neurons in Alzheimer's disease.
Oh J, Eser RA, Ehrenberg AJ, Morales D, Petersen C, Kudlacek J, Dunlop SR, Theofilas P, Resende EDPF, Cosme C, Alho EJL, Spina S, Walsh CM, Miller BL, Seeley WW, Bittencourt JC, Neylan TC, Heinsen H, Grinberg LT. Oh J, et al. Among authors: spina s. Alzheimers Dement. 2019 Oct;15(10):1253-1263. doi: 10.1016/j.jalz.2019.06.3916. Epub 2019 Aug 12. Alzheimers Dement. 2019. PMID: 31416793 Free PMC article.
Evidence of corticofugal tau spreading in patients with frontotemporal dementia.
Kim EJ, Hwang JL, Gaus SE, Nana AL, Deng J, Brown JA, Spina S, Lee MJ, Ramos EM, Grinberg LT, Kramer JH, Boxer AL, Gorno-Tempini ML, Rosen HJ, Miller BL, Seeley WW. Kim EJ, et al. Among authors: spina s. Acta Neuropathol. 2020 Jan;139(1):27-43. doi: 10.1007/s00401-019-02075-z. Epub 2019 Sep 21. Acta Neuropathol. 2020. PMID: 31542807 Free PMC article.
290 results