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Page 1
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.
Pottier C, Küçükali F, Baker M, Batzler A, Jenkins GD, van Blitterswijk M, Vicente CT, De Coster W, Wynants S, Van de Walle P, Ross OA, Murray ME, Faura J, Haggarty SJ, van Rooij JG, Mol MO, Hsiung GR, Graff C, Öijerstedt L, Neumann M, Asmann Y, McDonnell SK, Baheti S, Josephs KA, Whitwell JL, Bieniek KF, Forsberg L, Heuer H, Lago AL, Geier EG, Yokoyama JS, Oddi AP, Flanagan M, Mao Q, Hodges JR, Kwok JB, Domoto-Reilly K, Synofzik M, Wilke C, Onyike C, Dickerson BC, Evers BM, Dugger BN, Munoz DG, Keith J, Zinman L, Rogaeva E, Suh E, Gefen T, Geula C, Weintraub S, Diehl-Schmid J, Farlow MR, Edbauer D, Woodruff BK, Caselli RJ, Donker Kaat LL, Huey ED, Reiman EM, Mead S, King A, Roeber S, Nana AL, Ertekin-Taner N, Knopman DS, Petersen RC, Petrucelli L, Uitti RJ, Wszolek ZK, Ramos EM, Grinberg LT, Gorno Tempini ML, Rosen HJ, Spina S, Piguet O, Grossman M, Trojanowski JQ, Keene DC, Lee-Way J, Prudlo J, Geschwind DH, Rissman RA, Cruchaga C, Ghetti B, Halliday GM, Beach TG, Serrano GE, Arzberger T, Herms J, Boxer AL, Honig LS, Vonsattel JP, Lopez OL, Kofler J, White CL, Gearing M, Glass J, Rohrer JD, Irwin DJ, Lee EB, Van Deerlin V, Castellani R, Mesulam MM, Tartaglia MC, Finger EC… See abstract for full author list ➔ Pottier C, et al. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309088. doi: 10.1101/2024.06.24.24309088. medRxiv. 2024. PMID: 38978643 Free PMC article. Preprint.
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Boylan KB, Boeve BF, Graff-Radford NR, Veltman JA, Gilissen C, Murray ME, Dickson DW, Rademakers R. Pottier C, et al. Acta Neuropathol. 2015 Jul;130(1):77-92. doi: 10.1007/s00401-015-1436-x. Epub 2015 May 6. Acta Neuropathol. 2015. PMID: 25943890 Free PMC article.
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
Ravenscroft TA, Pottier C, Murray ME, Baker M, Christopher E, Levitch D, Brown PH, Barker W, Duara R, Greig-Custo M, Betancourt A, English M, Sun X, Ertekin-Taner N, Graff-Radford NR, Dickson DW, Rademakers R. Ravenscroft TA, et al. Among authors: pottier c. Am J Neurodegener Dis. 2016 Mar 1;5(1):94-101. eCollection 2016. Am J Neurodegener Dis. 2016. PMID: 27073747 Free PMC article.
TYROBP genetic variants in early-onset Alzheimer's disease.
Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, Guerreiro R, Bras JT, Zuchner S, Gonzalez MA, Bu G, Younkin S, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. Pottier C, et al. Neurobiol Aging. 2016 Dec;48:222.e9-222.e15. doi: 10.1016/j.neurobiolaging.2016.07.028. Epub 2016 Aug 8. Neurobiol Aging. 2016. PMID: 27658901 Free PMC article.
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Züchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R. Mackenzie IR, et al. Among authors: pottier c. Neuron. 2017 Aug 16;95(4):808-816.e9. doi: 10.1016/j.neuron.2017.07.025. Neuron. 2017. PMID: 28817800 Free PMC article.
Clinical and neuropathological features of ALS/FTD with TIA1 mutations.
Hirsch-Reinshagen V, Pottier C, Nicholson AM, Baker M, Hsiung GR, Krieger C, Sengdy P, Boylan KB, Dickson DW, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, Zivkovic SA, Lacomis D, Taylor JP, Rademakers R, Mackenzie IRA. Hirsch-Reinshagen V, et al. Among authors: pottier c. Acta Neuropathol Commun. 2017 Dec 7;5(1):96. doi: 10.1186/s40478-017-0493-x. Acta Neuropathol Commun. 2017. PMID: 29216908 Free PMC article.
Identification of missing variants by combining multiple analytic pipelines.
Ren Y, Reddy JS, Pottier C, Sarangi V, Tian S, Sinnwell JP, McDonnell SK, Biernacka JM, Carrasquillo MM, Ross OA, Ertekin-Taner N, Rademakers R, Hudson M, Mainzer LS, Asmann YW. Ren Y, et al. Among authors: pottier c. BMC Bioinformatics. 2018 Apr 16;19(1):139. doi: 10.1186/s12859-018-2151-0. BMC Bioinformatics. 2018. PMID: 29661148 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. 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.
105 results