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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

Autor: Bonham, L.W., Steele, N.Z.R., Karch, C.M., Broce, I., Geier, E.G., Wen, N.L., Momeni, P., Hardy, J., Miller, Z.A., Gorno-Tempini, M.L., Hess, C.P., Lewis, P., Miller, B.L., Seeley, W.W., Manzoni, C., Desikan, R.S., Baranzini, S.E., Ferrari, R., Yokoyama, J.S., Hernandez, D.G., Nalls, M.A., Rohrer, J.D., Ramasamy, A., Kwok, J.B.J., Dobson-Stone, C., Schofield, P.R., Halliday, G.M., Hodges, J.R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, Isabel, Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N.J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, Diego, Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, Alberto, Blesa, R., Landqvist Waldö, M., Nilsson, K., Nilsson, C., Mackenzie, I.R.A., Hsiung, G.Y.R., Mann, D.M.A., Grafman, J., Morris, C.M., Attems, J., Griffiths, T.D., McKeith, I.G., Thomas, A.J., Pietrini, P., Huey, E.D., Wassermann, E.M., Baborie, A., Jaros, E., Tierney, M.C., Pastor, Pau, Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J.B., Schlachetzki, J.C.M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V.M., Grossman, M., Trojanowski, J.Q., van der Zee, J., Cruts, M., Van Broeckhoven, C., Cappa, S.F., Leber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, Sandro, Bagnoli, S., Piaceri, I., Nielsen, J.E., Hjermind, L.E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M.N., Fox, N.C., Warren, J.D., Spillantini, M.G., Morris, H.R., Rizzu, P., Heutink, P., Snowden, J.S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A.C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M.E., Smirne, N., Rademakers, R., Baker, M., Dickson, Dennis W., Graff-Radford, N.R., Petersen, R.C., Knopman, D., Josephs, K.A., Boeve, B.F., Parisi, J.E., Karydas, A.M., Rosen, H., van Swieten, J.C., Dopper, E.G.P., Seelaar, H., Pijnenburg, Y.A.L., Scheltens, Philip, Logroscino, G., Capozzo, R., Novelli, V., Puca, A.A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H.H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A.B., Universitat Autònoma de Barcelona

Publikováno v: 2019, ' Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia ', Scientific Reports, vol. 9, no. 1, 10854 . https://doi.org/10.1038/s41598-019-46415-1
Scientific reports, vol 9, iss 1
Scientific Reports
Nielsen, J E & International FTD-Genomics Consortium (IFGC) 2019, ' Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia ', Scientific Reports, vol. 9, no. 1, 10854 . https://doi.org/10.1038/s41598-019-46415-1
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientific reports
Scientific Reports, Vol 9, Iss 1, Pp 1-10 (2019)
Scientific Reports, 9:10854. Nature Publishing Group
Bonham, L W, Steele, N Z R, Karch, C M, Broce, I, Geier, E G, Wen, N L, Momeni, P, Hardy, J, Miller, Z A, Gorno-Tempini, M L, Hess, C P, Lewis, P, Miller, B L, Seeley, W W, Manzoni, C, Desikan, R S, Baranzini, S E, Ferrari, R, Yokoyama, J S & International FTD-Genomics Consortium (IFGC) 2019, ' Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia ', Scientific Reports, vol. 9, no. 1, 10854 . https://doi.org/10.1038/s41598-019-46415-1
Scientific Reports, 9(1):10854. Nature Publishing Group
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73e6addd6fdc28f79e3172dedb4e270
https://kclpure.kcl.ac.uk/ws/files/123174307/s41598_019_46415_1.pdf

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