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mutation ftld-tdp control disease inclusion department expression university brain research frontotemporal lobar degeneration -43 grn mutations table association antibody tissue sample tmem 106b pathology study tmem 106b expression center level analysis neurology medicine frontotemporal optineurin individual cytoplasmic alzheimer optn inclusions b -3 tubulin grn mutation patient neuron genotype degeneration institute nature chromosome protein tdp -43 hospital lobar signi tubulin labelling locus school allele factor ftld-tdp cases number optn levels ftld-tau signi ficant difference genome-wide genetic motor replication neurodegenerative cohort dementia california immunohistochemistry section frontotemporal dementia als cases sclerosis pennsylvania value amyotrophic staining ad cases variant health 7 p 21 tdp -43 inclusions
4 Most Recent Publications
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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
(Article)
Hoglinger, G. Melhem, N.M. Swieten, J.C. van Pahwa, R. Pezzoli, G. Pickering-Brown, S. Poewe, W. Rabano, A. Rajput, A. Reich, S.G. Respondek, G. Roeber, S. Rohrer, J.D. Heutink, P. Ross, O.A. Rossor, M. Sacilotto, G. Seeley, W.W. Seppi, K. Silveira-Moriyama, L. Spina, S. Srulijes, K. St. George-Hyslop, P. Stamelou, M. Wszolek, Z.K. Standaert, D.G. Tesei, S. Tourtellotte, W.W. Trenkwalder, C. Troakes, C. Trojanowski, J.Q. Troncoso, J.C. Deerlin, V.M. Vonsattel, J.P.G. Wenning, G.K. Uitti, R.J. White, C.L. Winter, P. Zarow, C. Zecchinelli, A.L. Antonini, A. Vandrovcova, J. Hurtig, H.I. Gross, R.G. Maetzler, W. Goldwurm, S. Tolosa, E. Dickson, D. Borroni, B. Pastor, P. Cantwell, L.B. Han, M.R. Dillman, A. Brug, M.P. van der Gibbs, J. Cookson, M.R. Hernandez, D.G. Singleton, A. Sleiman, P.M.A. Farrer, M.J. Yu, C.-E. Golbe, L.I. Revesz, T. Hardy, J. Lees, A.J. Devlin, B. Hakonarson, H. Müller, U. Schellenberg, G.D. Wang, L.-S. Albin, R.L. Alonso, E. Apfelbacher, M. Arnold, S.E. Avila, J. Beach, T.G. Beecher, S. Berg, D. Bird, T.D. Bogdanovic, N. Klei, L. Boon, A.J.W. Bordelon, Y. Brice, A. Budka, H. Canesi, M. Chiu, W.Z. Cilia, R. Colosimo, C. Deyn, P.P. de Yebenes, J.G. de Rademakers, R. Donker Kaat, L. Duara, R. Durr, A. Engelborghs, S. Fabbrini, G. Finch, N.A. Flook, R. Frosch, M.P. Gaig, C. Galasko, D. Silva, R. de Gasser, T. Gearing, M. Geller, E.T. Ghetti, B. Graff-Radford, N.R. Grossman, M. Hall, D.A. Hazrati, L.-N. Höllerhage, M. Jankovic, J. Litvan, I. Juncos, J.L. Karydas, A. Kretzschmar, H.A. Leber, I. Lee, V.M.Y. Lieberman, A.P. Lyons, K.E. Mariani, C. Masliah, E. Massey, L.A. Riley, D.E. McLean, C.A. Meucci, N. Miller, B.L. Mollenhauer, B. Möller, J.C. Morris, H. O'Sullivan, S.S. Oertel, W. Ottaviani, D. Padovani, A. |
2011-07-01
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Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption
(Article)
Schumann, G. Coin, L. Bakalkin, G. Spector, T.D. Loos, R.J.F. Boomsma, D.I. Mooser, V. Peltonen, L. Stefansson, K. Tikka-Kleemola, P. Vineis, P. Sommer, W.H. Kooner, J.S. Balkau, B. Spanagel, R. Heberlein, U.A. Järvelin, M.R. Elliott, P. Aulchenko, Y.S. Bakker, S.J.L. Beulens, J.W.J. Bilbao, A. Boer, R.A. de Beury, D. Bots, M.L. Breetvelt, E.J. Cauchi, S. Cavalcanti-Proença, C. Lourdusamy, A. Chambers, J.C. Clarke, T.-K. Dahmen, N. Geus, E.J.C. de Dick, D. Ducci, F. Easton, A. Edenberg, H.J. Esk, T. Fernández-Medarde, A. Charoen, P. Foroud, T. Freimer, N.B. Girault, J.-A. Grobbee, D.E. Guarrera, S. Gudbjartsson, D.F. Hartikainen, A.L. Heath, A.C. Hesselbrock, V. Hofman, A. Berger, K.H. Hottenga, J.J. Isohanni, M.K. Kaprio, J. Khaw, K-T. Kuehnel, B. Laitinen, J. Lobbens, S. Luan, J. Mangino, M. Maroteaux, M. Stacey, D. Matullo, G. McCarthy, M.I. Mueller, C. Navis, G. Numans, M.E. Núñez, A. Nyholt, D.R. Onland-Moret, C.N. Oostra, B.A. O'Reilly, P.F. Desrivières, S. Palkovits, M. Penninx, B.W.J.H. Polidoro, S. Pouta, A. Prokopenko, I. Ricceri, F. Santos, E. Smit, J.H. Soranzo, N. Song, K. Aliev, F.A. Sovio, U. Stumvoll, M. Surakk, I. Thorgeirsson, T.E. Thorsteinsdottir, U. Troakes, C. Tyrfingsson, T. Tönjes, A. Uiterwaal, C.S.P.M. Uitterlinden, A.G. Khan, A.A. Harst, P. van der Schouw, Y.T. van der Staehlin, O. Vogelzangs, N. Vollenweider, P. Waeber, G. Wareham, N.J. Waterworth, D. Whitfield, J.B. Wichmann, E.H. Amin, N. Willemsen, G.A.H.M. Witteman, J.C.M. Yuan, X. Zhai, G. Zhao, J.H. Zhang, W. Martin, N.G. Metspalu, A. Doering, A. Scott, J. |
2011-04-26
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Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders
(Article)
Hortobágyi, T. Troakes, C. Nishimura, A.L. Vance, C. Swieten, J.C. van Seelaar, H. King, A.A. Al-Sarraj, S. Rogelj, B. Shaw, C.E. |
2011-04-01
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
(Article)
Deerlin, V.M. Sleiman, P.M.A. Arnold, S.E. Mann, D. Pickering-Brown, S. Seelaar, H. Heutink, P. Swieten, J.C. van Murrell, J.R. Ghetti, B. Spina, S. Grafman, J. Martinez-Lage, M. Hodges, J. Spillantini, M.G. Gilman, S. Lieberman, A.P. Kaye, J.A. Woltjer, R.L. Bigio, E.H. Mesulam, M. Al-Sarraj, S. Troakes, C. Chen-Plotkin, A. Rosenberg, R.N. White, C.L. Ferrer, I. Lladó, A. Neumann, H.A.M. Kretzschmar, H.A. Hulette, C. Welsh-Bohmer, K.A. Miller, B.L. Alzualde, A. Wang, L. Munain, A.L. de McKee, A.C. Gearing, M. Levey, A.I. Lah, J.J. Hardy, J. Rohrer, J.D. Lashley, T. Mackenzie, I.R.A. Feldman, H.H. Graff-Radford, N.R. Hamilton, R.L. Dekosky, S.T. Zee, J. van der Kumar-Singh, S. Broeckhoven, C. van Mayeux, R. Vonsattel, J.P. Troncoso, J.C. Kril, J.J. Kwok, J.B.J. Dickson, D. Halliday, G.M. Bird, T.D. Ince, P.G. Shaw, P.J. Cairns, N.J. Morris, J.C. McLean, C.A. DeCarli, C. Ellis, W.G. Freeman, S.H. Rademakers, R. Frosch, M.P. Growdon, J.H. Perl, D.P. Sano, M. Bennett, D.A. Schneider, J.A. Beach, T.G. Reiman, E.M. Woodruff, B.K. Cummings, J.F. Boeve, B. Vinters, H.V. Miller, C.A. Chui, H. Alafuzoff, I. Hartikainen, P. Seilhean, D. Galasko, D. Masliah, E. Cotman, C.W. Tũón, M.T. Grossman, M. Martínez, M.C.C. Munoz, D.G. Carroll, S.L. Marson, D. Riederer, P.F. Bogdanovic, N. Schellenberg, G.D. Hakonarson, H. Trojanowski, J.Q. Lee, V.M.Y. |
2010-03-01
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