Acta Neuropathol Acta Neuropathol . 2019 Aug;138(2):237-250. UCrea Repositorio Abierto de la Universidad de Cantabria Universidad de Cantabria (UC) ACTA NEUROPATHOLOGICA r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau) Acta Neuropathologica van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleó, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illán-Gala, I, Wei, W, Jeune, B, Hulsman, M, Beker, N, Tesi, N, Collij, L E, van Berckel, B N M, Reinders, M J T, van Schoor, N M, Lemstra, A W, Pijnenburg, Y A L, Scheltens, P, Huisman, M A, Heutink, P, Posthuma, D, van der Flier, W M, Holstege, H, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB) & The GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group 2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8 Acta neuropathologica 138(2), 237-250 (2019). doi:10.1007/s00401-019-02026-8 Acta neuropathologica 139(5), 959-962 (2020). doi:10.1007/s00401-019-02107-8 2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8 van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernandez, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleo, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illan-Gala, I, Wei, W, Jeune, B, Orellana, A, Bergh, F T, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, C M, Indakoetxea, B, Collij, L E, Scherer, M, Morenas-Rodriguez, E, Ironside, J W, van Berckel, B N M, Alcolea, D, Wiendl, H, Strickland, S L, Pastor, P, Rodriguez Rodriguez, E, Boeve, B F, Petersen, R C, Ferman, T J, van Gerpen, J A, Reinders, M J T, Uitti, R J, Tarraga, L, Maier, W, Dols-Icardo, O, Kawalia, A, Dalmasso, M C, Boada, M, Zettl, U K, van Schoor, N M, Beekman, M, Allen, M, Masliah, E, Lopez de Munain, A, Pantelyat, A, Wszolek, Z K, Ross, O A, Dickson, D W, Graff-Radford, N R, Knopman, D, Rademakers, R, Lemstra, A W, Pijnenburg, Y A L, Scheltens, P, Gasser, T, Chinnery, P F, Hemmer, B, Huisman, M A, Troncoso, J, Moreno, F, Nohr, E A, Sørensen, T I A, Heutink, P, Sanchez-Juan, P, Posthuma, D, Clarimon, J, Christensen, K, Ertekin-Taner, N, Scholz, S W, Ramirez, A, Ruiz, A, Slagboom, E, van der Flier, W M & Holstege, H 2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8 van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleó, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illán-Gala, I, Wei, W, Jeune, B, Orellana, A, Then Bergh, F, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, C M, Indakoetxea, B, Collij, L E, Scherer, M, Morenas-Rodríguez, E, Ironside, J W, van Berckel, B N M, Nohr, E A, Sørensen, T I A, Christensen, K & DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank) 2019, ' A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica, vol. 138, no. 2, pp. 237-250 . https://doi.org/10.1007/s00401-019-02026-8 van der Lee, S J, Conway, O J, Jansen, I, Carrasquillo, M M, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, K R, Stringa, N, Chen, J A, Zettergren, A, Andlauer, T F M, Diez-Fairen, M, Simon-Sanchez, J, Lleó, A, Zetterberg, H, Nygaard, M, Blauwendraat, C, Savage, J E, Mengel-From, J, Moreno-Grau, S, Wagner, M, Fortea, J, Keogh, M J, Blennow, K, Skoog, I, Friese, M A, Pletnikova, O, Zulaica, M, Lage, C, de Rojas, I, Riedel-Heller, S, Illán-Gala, I, Wei, W, Jeune, B, Orellana, A, Then Bergh, F, Wang, X, Hulsman, M, Beker, N, Tesi, N, Morris, C M, Indakoetxea, B, Collij, L E, Scherer, M, Morenas-Rodríguez, E, Ironside, J W, van Berckel, B N M, Alcolea, D & Wiendl, H 2019, ' Correction to : A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity ', Acta Neuropathologica . https://doi.org/10.1007/s00401-019-02107-8
Nat Med NATURE MEDICINE r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau) instname Nature medicine International Frontotemporal Dementia Genomics Consortium 2018, ' Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia ', Nature Medicine . https://doi.org/10.1038/s41591-018-0223-3 Nature Medicine, vol 25, iss 1
Sci Rep Scientific Reports r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau) 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 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 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
NATURE GENETICS r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau) Nature genetics 45(12), 1452-1458 (2013). doi:10.1038/ng.2802 Nature Genetics Nature Genetics, 2013, 45 (12), pp.1452-1458. ⟨10.1038/ng.2802⟩