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Page 1
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serra… See abstract for full author list ➔ Chia R, et al. Among authors: gentleman s. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
Tau acts as an independent genetic risk factor in pathologically proven PD.
Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF, Gentleman SM, Guerreiro R, Hardy J, Holton JL, Lees A, Morrison K, Sheerin UM, Williams N, Morris H, Revesz T, Wood NW. Charlesworth G, et al. Among authors: gentleman sm. Neurobiol Aging. 2012 Apr;33(4):838.e7-11. doi: 10.1016/j.neurobiolaging.2011.11.001. Epub 2012 Jan 4. Neurobiol Aging. 2012. PMID: 22221882 Free PMC article.
LRRK2 exonic variants and risk of multiple system atrophy.
Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, Troakes C, Dickson DW, Houlden H, Ross OA. Heckman MG, et al. Among authors: gentleman sm. Neurology. 2014 Dec 9;83(24):2256-61. doi: 10.1212/WNL.0000000000001078. Epub 2014 Nov 5. Neurology. 2014. PMID: 25378673 Free PMC article.
Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism.
Prusiner SB, Woerman AL, Mordes DA, Watts JC, Rampersaud R, Berry DB, Patel S, Oehler A, Lowe JK, Kravitz SN, Geschwind DH, Glidden DV, Halliday GM, Middleton LT, Gentleman SM, Grinberg LT, Giles K. Prusiner SB, et al. Among authors: gentleman sm. Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):E5308-17. doi: 10.1073/pnas.1514475112. Epub 2015 Aug 31. Proc Natl Acad Sci U S A. 2015. PMID: 26324905 Free PMC article.
Cortical Lewy bodies and Aβ burden are associated with prevalence and timing of dementia in Lewy body diseases.
Ruffmann C, Calboli FC, Bravi I, Gveric D, Curry LK, de Smith A, Pavlou S, Buxton JL, Blakemore AI, Takousis P, Molloy S, Piccini P, Dexter DT, Roncaroli F, Gentleman SM, Middleton LT. Ruffmann C, et al. Among authors: gentleman sm. Neuropathol Appl Neurobiol. 2016 Aug;42(5):436-50. doi: 10.1111/nan.12294. Epub 2015 Dec 2. Neuropathol Appl Neurobiol. 2016. PMID: 26527105 Free article.
Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy.
Kovacs GG, Ferrer I, Grinberg LT, Alafuzoff I, Attems J, Budka H, Cairns NJ, Crary JF, Duyckaerts C, Ghetti B, Halliday GM, Ironside JW, Love S, Mackenzie IR, Munoz DG, Murray ME, Nelson PT, Takahashi H, Trojanowski JQ, Ansorge O, Arzberger T, Baborie A, Beach TG, Bieniek KF, Bigio EH, Bodi I, Dugger BN, Feany M, Gelpi E, Gentleman SM, Giaccone G, Hatanpaa KJ, Heale R, Hof PR, Hofer M, Hortobágyi T, Jellinger K, Jicha GA, Ince P, Kofler J, Kövari E, Kril JJ, Mann DM, Matej R, McKee AC, McLean C, Milenkovic I, Montine TJ, Murayama S, Lee EB, Rahimi J, Rodriguez RD, Rozemüller A, Schneider JA, Schultz C, Seeley W, Seilhean D, Smith C, Tagliavini F, Takao M, Thal DR, Toledo JB, Tolnay M, Troncoso JC, Vinters HV, Weis S, Wharton SB, White CL 3rd, Wisniewski T, Woulfe JM, Yamada M, Dickson DW. Kovacs GG, et al. Among authors: gentleman sm. Acta Neuropathol. 2016 Jan;131(1):87-102. doi: 10.1007/s00401-015-1509-x. Epub 2015 Dec 10. Acta Neuropathol. 2016. PMID: 26659578 Free PMC article. Review.
Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG).
Kovacs GG, Xie SX, Lee EB, Robinson JL, Caswell C, Irwin DJ, Toledo JB, Johnson VE, Smith DH, Alafuzoff I, Attems J, Bencze J, Bieniek KF, Bigio EH, Bodi I, Budka H, Dickson DW, Dugger BN, Duyckaerts C, Ferrer I, Forrest SL, Gelpi E, Gentleman SM, Giaccone G, Grinberg LT, Halliday GM, Hatanpaa KJ, Hof PR, Hofer M, Hortobágyi T, Ironside JW, King A, Kofler J, Kövari E, Kril JJ, Love S, Mackenzie IR, Mao Q, Matej R, McLean C, Munoz DG, Murray ME, Neltner J, Nelson PT, Ritchie D, Rodriguez RD, Rohan Z, Rozemuller A, Sakai K, Schultz C, Seilhean D, Smith V, Tacik P, Takahashi H, Takao M, Rudolf Thal D, Weis S, Wharton SB, White CL 3rd, Woulfe JM, Yamada M, Trojanowski JQ. Kovacs GG, et al. Among authors: gentleman sm. J Neuropathol Exp Neurol. 2017 Jul 1;76(7):605-619. doi: 10.1093/jnen/nlx041. J Neuropathol Exp Neurol. 2017. PMID: 28591867 Free PMC article.
MSA prions exhibit remarkable stability and resistance to inactivation.
Woerman AL, Kazmi SA, Patel S, Freyman Y, Oehler A, Aoyagi A, Mordes DA, Halliday GM, Middleton LT, Gentleman SM, Olson SH, Prusiner SB. Woerman AL, et al. Among authors: gentleman sm. Acta Neuropathol. 2018 Jan;135(1):49-63. doi: 10.1007/s00401-017-1762-2. Epub 2017 Aug 28. Acta Neuropathol. 2018. PMID: 28849371 Free PMC article.
225 results