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Page 1
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kaw… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: zulaica m. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.
Moreno F, Indakoetxea B, Barandiaran M, Caballero MC, Gorostidi A, Calafell F, Gabilondo A, Tainta M, Zulaica M, Martí Massó JF, López de Munain A, Sánchez-Juan P, Lee SE. Moreno F, et al. Among authors: zulaica m. PLoS One. 2017 Jun 8;12(6):e0178093. doi: 10.1371/journal.pone.0178093. eCollection 2017. PLoS One. 2017. PMID: 28594853 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: zulaica m. 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.
The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint.
Premi E, Calhoun VD, Diano M, Gazzina S, Cosseddu M, Alberici A, Archetti S, Paternicò D, Gasparotti R, van Swieten J, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe J, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler C, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Frisoni G, Cappa S, Sorbi S, Padovani A, Rohrer JD, Borroni B; Genetic FTD Initiative, GENFI. Premi E, et al. Neuroimage. 2019 Apr 1;189:645-654. doi: 10.1016/j.neuroimage.2019.01.080. Epub 2019 Feb 1. Neuroimage. 2019. PMID: 30716457 Free PMC article.
Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia.
Rittman T, Borchert R, Jones S, van Swieten J, Borroni B, Galimberti D, Masellis M, Tartaglia MC, Graff C, Tagliavini F, Frisoni GB, Laforce R Jr, Finger E, Mendonça A, Sorbi S, Rohrer JD, Rowe JB; Genetic Frontotemporal Dementia Initiative (GENFI). Rittman T, et al. Neurobiol Aging. 2019 May;77:169-177. doi: 10.1016/j.neurobiolaging.2018.12.009. Epub 2019 Jan 4. Neurobiol Aging. 2019. PMID: 30831384 Free PMC article.
Education modulates brain maintenance in presymptomatic frontotemporal dementia.
Gazzina S, Grassi M, Premi E, Cosseddu M, Alberici A, Archetti S, Gasparotti R, Van Swieten J, Galimberti D, Sanchez-Valle R, Laforce RJ, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Frisoni G, Sorbi S, Padovani A, Rohrer JD, Borroni B; Genetic FTD Initiative, GENFI. Gazzina S, et al. J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1124-1130. doi: 10.1136/jnnp-2019-320439. Epub 2019 Jun 10. J Neurol Neurosurg Psychiatry. 2019. PMID: 31182509
Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.
van der Ende EL, Meeter LH, Poos JM, Panman JL, Jiskoot LC, Dopper EGP, Papma JM, de Jong FJ, Verberk IMW, Teunissen C, Rizopoulos D, Heller C, Convery RS, Moore KM, Bocchetta M, Neason M, Cash DM, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R Jr, Moreno F, Synofzik M, Graff C, Masellis M, Carmela Tartaglia M, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler C, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Frisoni GB, Cappa S, Pijnenburg YAL, Rohrer JD, van Swieten JC; Genetic Frontotemporal dementia Initiative (GENFI). van der Ende EL, et al. Lancet Neurol. 2019 Dec;18(12):1103-1111. doi: 10.1016/S1474-4422(19)30354-0. Lancet Neurol. 2019. PMID: 31701893 Free 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.
White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study.
Sudre CH, Bocchetta M, Heller C, Convery R, Neason M, Moore KM, Cash DM, Thomas DL, Woollacott IOC, Foiani M, Heslegrave A, Shafei R, Greaves C, van Swieten J, Moreno F, Sanchez-Valle R, Borroni B, Laforce R Jr, Masellis M, Tartaglia MC, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler C, Gerhard A, Levin J, Danek A, Frisoni GB, Sorbi S, Otto M, Zetterberg H, Ourselin S, Cardoso MJ, Rohrer JD; On behalf of, GENFI. Sudre CH, et al. Neuroimage Clin. 2019;24:102077. doi: 10.1016/j.nicl.2019.102077. Epub 2019 Nov 6. Neuroimage Clin. 2019. PMID: 31835286 Free PMC article.
Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia.
Heller C, Foiani MS, Moore K, Convery R, Bocchetta M, Neason M, Cash DM, Thomas D, Greaves CV, Woollacott IO, Shafei R, Van Swieten JC, Moreno F, Sanchez-Valle R, Borroni B, Laforce R Jr, Masellis M, Tartaglia MC, Graff C, Galimberti D, Rowe JB, Finger E, Synofzik M, Vandenberghe R, de Mendonca A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Frisoni G, Sorbi S, Otto M, Heslegrave AJ, Zetterberg H, Rohrer JD; GENFI. Heller C, et al. J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):263-270. doi: 10.1136/jnnp-2019-321954. Epub 2020 Jan 14. J Neurol Neurosurg Psychiatry. 2020. PMID: 31937580 Free article.
95 results