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Page 1
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: glass j. 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.
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.
Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P; Alzheimer's Disease Genetics Consortium; Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD. Jun G, et al. Arch Neurol. 2010 Dec;67(12):1473-84. doi: 10.1001/archneurol.2010.201. Epub 2010 Aug 9. Arch Neurol. 2010. PMID: 20697030 Free PMC article.
Reduced CSF p-Tau181 to Tau ratio is a biomarker for FTLD-TDP.
Hu WT, Watts K, Grossman M, Glass J, Lah JJ, Hales C, Shelnutt M, Van Deerlin V, Trojanowski JQ, Levey AI. Hu WT, et al. Among authors: glass j. Neurology. 2013 Nov 26;81(22):1945-52. doi: 10.1212/01.wnl.0000436625.63650.27. Epub 2013 Oct 30. Neurology. 2013. PMID: 24174584 Free PMC article.
Late-stage CTE pathology in a retired soccer player with dementia.
Hales C, Neill S, Gearing M, Cooper D, Glass J, Lah J. Hales C, et al. Among authors: glass j. Neurology. 2014 Dec 9;83(24):2307-9. doi: 10.1212/WNL.0000000000001081. Epub 2014 Nov 5. Neurology. 2014. PMID: 25378682 Free PMC article. No abstract available.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: glass jd. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 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: glass j. 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.
Early Selective Vulnerability of the CA2 Hippocampal Subfield in Primary Age-Related Tauopathy.
Walker JM, Richardson TE, Farrell K, Iida MA, Foong C, Shang P, Attems J, Ayalon G, Beach TG, Bigio EH, Budson A, Cairns NJ, Corrada M, Cortes E, Dickson DW, Fischer P, Flanagan ME, Franklin E, Gearing M, Glass J, Hansen LA, Haroutunian V, Hof PR, Honig L, Kawas C, Keene CD, Kofler J, Kovacs GG, Lee EB, Lutz MI, Mao Q, Masliah E, McKee AC, McMillan CT, Mesulam MM, Murray M, Nelson PT, Perrin R, Pham T, Poon W, Purohit DP, Rissman RA, Sakai K, Sano M, Schneider JA, Stein TD, Teich AF, Trojanowski JQ, Troncoso JC, Vonsattel JP, Weintraub S, Wolk DA, Woltjer RL, Yamada M, Yu L, White CL, Crary JF. Walker JM, et al. Among authors: glass j. J Neuropathol Exp Neurol. 2021 Jan 20;80(2):102-111. doi: 10.1093/jnen/nlaa153. J Neuropathol Exp Neurol. 2021. PMID: 33367843 Free PMC article.
Genome-wide association study and functional validation implicates JADE1 in tauopathy.
Farrell K, Kim S, Han N, Iida MA, Gonzalez EM, Otero-Garcia M, Walker JM, Richardson TE, Renton AE, Andrews SJ, Fulton-Howard B, Humphrey J, Vialle RA, Bowles KR, de Paiva Lopes K, Whitney K, Dangoor DK, Walsh H, Marcora E, Hefti MM, Casella A, Sissoko CT, Kapoor M, Novikova G, Udine E, Wong G, Tang W, Bhangale T, Hunkapiller J, Ayalon G, Graham RR, Cherry JD, Cortes EP, Borukov VY, McKee AC, Stein TD, Vonsattel JP, Teich AF, Gearing M, Glass J, Troncoso JC, Frosch MP, Hyman BT, Dickson DW, Murray ME, Attems J, Flanagan ME, Mao Q, Mesulam MM, Weintraub S, Woltjer RL, Pham T, Kofler J, Schneider JA, Yu L, Purohit DP, Haroutunian V, Hof PR, Gandy S, Sano M, Beach TG, Poon W, Kawas CH, Corrada MM, Rissman RA, Metcalf J, Shuldberg S, Salehi B, Nelson PT, Trojanowski JQ, Lee EB, Wolk DA, McMillan CT, Keene CD, Latimer CS, Montine TJ, Kovacs GG, Lutz MI, Fischer P, Perrin RJ, Cairns NJ, Franklin EE, Cohen HT, Raj T, Cobos I, Frost B, Goate A, White Iii CL, Crary JF. Farrell K, et al. Among authors: glass j. Acta Neuropathol. 2022 Jan;143(1):33-53. doi: 10.1007/s00401-021-02379-z. Epub 2021 Nov 1. Acta Neuropathol. 2022. PMID: 34719765 Free PMC article.
Differential Vulnerability of Hippocampal Subfields in Primary Age-Related Tauopathy and Chronic Traumatic Encephalopathy.
Farrell K, Iida MA, Cherry JD, Casella A, Stein TD, Bieniek KF, Walker JM, Richardson TE, White CL, Alvarez VE, Huber BR, Dickson DW, Insausti R, Dams-O'Connor K; Part Working Group; McKee AC, Crary JF. Farrell K, et al. J Neuropathol Exp Neurol. 2022 Sep 19;81(10):781-789. doi: 10.1093/jnen/nlac066. J Neuropathol Exp Neurol. 2022. PMID: 36004533 Free PMC article.
Interpretable deep learning of myelin histopathology in age-related cognitive impairment.
McKenzie AT, Marx GA, Koenigsberg D, Sawyer M, Iida MA, Walker JM, Richardson TE, Campanella G, Attems J, McKee AC, Stein TD, Fuchs TJ, White CL 3rd; PART working group; Farrell K, Crary JF. McKenzie AT, et al. Acta Neuropathol Commun. 2022 Sep 21;10(1):131. doi: 10.1186/s40478-022-01425-5. Acta Neuropathol Commun. 2022. PMID: 36127723 Free PMC article.
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