Genetic risk for neurodegenerative disorders, and its overlap with cognitive ability and physical function.

Autor: Saskia P Hagenaars, Ratko Radaković, Christopher Crockford, Chloe Fawns-Ritchie, International FTD-Genomics Consortium (IFGC), Sarah E Harris, Catharine R Gale, Ian J Deary

Publikováno v: PLoS ONE, Vol 13, Iss 6, p e0198187 (2018)

Neurodegenerative disorders are associated with impaired cognitive function and worse physical health outcomes. This study aims to test whether polygenic risk for Alzheimer's disease, Amyotrophic Lateral Sclerosis (ALS), or frontotemporal dementia (F

Externí odkaz: https://doaj.org/article/56cf3509b48a4ecd845ecc0ee84bdfe2

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Autor: Zhang M1, 2 3, Ferrari R4, Tartaglia MC3, 5 6, Keith J7, Surace EI8, Wolf U9, Sato C3, Grinberg M3, Liang Y3, Xi Z3, Dupont K3, McGoldrick P3, Weichert A3, McKeever PM3, Schneider R3, 6 7, McCorkindale MD4, Manzoni C10, Rademakers R11, Graff-Radford NR12, Dickson DW11, Parisi JE13, Boeve BF14, Petersen RC14, Miller BL15, Seeley WW16, van Swieten JC17, van Rooij J17, Pijnenburg Y18, van der Zee J19, Van Broeckhoven C19, Le Ber I21, Van Deerlin V23, Suh E23, Rohrer JD24, Mead S25, Graff C26, Öijerstedt L26, Pickering-Brown S28, Rollinson S28, Rossi G29, Tagliavini F30, Brooks WS31, Dobson-Stone C32, Halliday GM32, Hodges JR32, Piguet O34, Binetti G36, Benussi L37, Ghidoni R37, Nacmias B38, Sorbi S38, Bruni AC40, Galimberti D41, Scarpini E41, Rainero I42, Rubino E42, Clarimon J43, Lleó A43, Ruiz A45, Hernández I45, Pastor P46, Diez-Fairen M46, Borroni B48, Pasquier F49, Deramecourt V49, Lebouvier T49, Perneczky R50, 51 52, Diehl-Schmid J50, Grafman J53, Huey ED55, Mayeux R55, Nalls MA57, Hernandez D57, Singleton A57, Momeni P58, Zeng Z59, Hardy J4, Robertson J3, Zinman L6, 7, Rogaeva E3, 6, International FTD-Genomics Consortium (IFGC), Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JBJ, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Albani D, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Wald Ouml ML, Nilsson K, Nilsson C, Mackenzie IRA, Hsiung GR, Mann DMA, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, 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 JB, Schlachetzki JCM, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Van Broeckhoven C, Cappa SF, Leber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Grazia Spillantini M, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Elena Conidi M, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EGP, Seelaar H, Pijnenburg YAL, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebouvier T, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P

Publikováno v: Brain, 141(10), 2895-2907. Oxford University Press
Brain
Zhang, M, Ferrari, R, Tartaglia, M C, Keith, J, Surace, E I, Wolf, U, Sato, C, Grinberg, M, Liang, Y, Xi, Z, Dupont, K, McGoldrick, P, Weichert, A, McKeever, P M, Schneider, R, McCorkindale, M D, Manzoni, C, Rademakers, R, Graff-Radford, N R, Dickson, D W, Parisi, J E, Boeve, B F, Petersen, R C, Miller, B L, Seeley, W W, van Swieten, J C, van Rooij, J, Pijnenburg, Y, van der Zee, J, van Broeckhoven, C, le Ber, I, van Deerlin, V, Suh, E, Rohrer, J D, Mead, S, Graff, C, Öijerstedt, L, Pickering-Brown, S, Rollinson, S, Rossi, G, Tagliavini, F, Brooks, W S, Dobson-Stone, C, Halliday, G M, Hodges, J R, Piguet, O, Binetti, G, Benussi, L, Ghidoni, R, Nacmias, B, Sorbi, S, Bruni, A C, Galimberti, D, Scarpini, E, Rainero, I, Rubino, E, Clarimon, J, Lleó, A, Ruiz, A, Hernández, I, Pastor, P, Diez-Fairen, M, Borroni, B, Pasquier, F, Deramecourt, V, Lebouvier, T, Perneczky, R, Diehl-Schmid, J, Grafman, J, Huey, E D, Mayeux, R, Nalls, M A, Hernandez, D, Singleton, A, Momeni, P, Zeng, Z, Hardy, J, Robertson, J, Zinman, L & Rogaeva, E 2018, ' A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers ', Brain, vol. 141, no. 10, pp. 2895-2907 . https://doi.org/10.1093/brain/awy238
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Brain, 141, 2895-2907. Oxford University Press

Discovery of disease age-of-onset modifiers is important for clinical trials and drug design. Zhang et al. perform a genome-wide analysis of epigenetic functional polymorphisms and identify an association between the C6orf10/LOC101929163 locus and ag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d9affbfc7e86881a930ed396130dbf6d
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85054408708&origin=inward

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

Autor: van der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till F M, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ifgc, Raffaele, Ferrari, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Adaikalavanramasamy, Kwok, John B. J., Carol, Dobson-Stone, Brooks, William S., Schofield, Peterr., Halliday, Glenda M., Hodges, John R., Olivier, Piguet, Laurenbartley, Elizabeth, Thompson, Eric, Haan, Isabel, Hernández, Agustín, Ruiz, Mercè, Boada, Barbara, Borroni, Alessandro, Padovani, Carlos, Cruchaga, Cairns, Nigel J., Luisa, Benussi, Giuliano, Binetti, Roberta, Ghidoni, Gianluigiforloni, Daniela, Galimberti, Chiara, Fenoglio, Maria, Serpente, Elio, Scarpini, Jordi, Clarimón, Alberto, Lleó, Rafael, Blesa, Maria Landqvist Waldö, Karinnilsson, Christer, Nilsson, Mackenzie, Ian R. A., Hsiung, Ging-Yuek R., Mann, DavidM. A., Jordan, Grafman, Morris, Christopher M., Johannes, Attems, Griffiths, Timothy D., Mckeith, Ian G., Thomas, Alan J., Pietrini, P., Huey, Edward D., Wassermann, Eric M., Atik, Baborie, Evelyn, Jaros, Tierney, Michael C., Pau, Pastor, Cristina, Razquin, Sara, Ortega-Cubero, Elena, Alonso, Robertperneczky, Janine, Diehl-Schmid, Panagiotis, Alexopoulos, Alexander, Kurz, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Ekaterina, Rogaeva, George-Hyslop, Peterst., Giacomina, Rossi, Fabrizio, Tagliavini, Giorgio, Giaccone, Rowe, James B., Schlachetzki, Johannes C. M., James, Uphill, John, Collinge, Simon, Mead, Adrian, Danek, Van Deerlin, Vivianna M., Murray, Grossman, Trojanowski, John Q., Julie van der Zee, William, Deschamps, Tim, Vanlangenhove, Marc, Cruts, Christine Van Broeckhoven, Cappa, Stefano F., Isabelle Le Ber, Didier, Hannequin, Véronique, Golfier, Martine, Vercelletto, Alexis, Brice, Benedetta, Nacmias, Sandro, Sorbi, Silvia, Bagnoli, Irene, Piaceri, Nielsen, Jørgen E., Hjermind, Lena E., Matthias, Riemenschneider, Manuelmayhaus, Bernd, Ibach, Gilles, Gasparoni, Sabrina, Pichler, Wei, Gu, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Maria Grazia Spillantini, Morris, Huw R., Patrizia, Rizzu, Peter, Heutink, Snowden, Julie S., Sara, Rollinson, Annarichardson, Alexander, Gerhard, Bruni, Amalia C., Raffaele, Maletta, Fran-cesca, Frangipane, Chiara, Cupidi, Livia, Bernardi, Maria, Anfossi, Maura, Gallo, Maria Elena Conidi, Nicoletta, Smirne, Rosa, Rademakers, Matt, Baker, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Davidknopman, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Howard, Rosen, Vanswieten, John C., Dopper, Elise G. P., Harro, Seelaar, Pijnenburg, Yolande A. L., Philipscheltens, Giancarlo, Logroscino, Rosa, Capozzo, Valeria, Novelli, Puca, Annibale A., Massimo, Franceschi, Alfredo, Postiglione, Graziella, Milan, Paolosorrentino, Mark, Kristiansen, Huei-Hsin, Chiang, Caroline, Graff, Florencepasquier, Adeline, Rollin, Vincent, Deramecourt, Florence, Lebert, Dimitrioskapogiannis, Luigi, Ferrucci, Stuart, Pickering-Brown, Singleton, Andrew B., John, Hardy, Parastoo, Momeni, Ironside, James W, van Berckel, Bart N M, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, Boeve, Bradley F, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel J T, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande A L, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild I A, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, Clarimón, Jordi, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W, Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, van der Flier, Wiesje M, Holstege, Henne

Publikováno v: ACTA NEUROPATHOLOGICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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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
Acta neuropathologica 138(2), 237-250 (2019). doi:10.1007/s00401-019-02026-8
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Acta Neuropathologica, 138(2), 237-250. Springer Verlag
Acta Neuropathol . 2019 Aug;138(2):237-250.
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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
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
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

ATENCIÓ: la correcció està també al DDD, cal relacionar??? https://ddd.uab.cat/record/226203 Altres ajuts: The following studies and consortia have contributed to this manuscript. Amsterdam dementia Cohort (ADC): Research of the Alzheimer center

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236c815c1d8287553434b852a305ebcb
http://resolver.tudelft.nl/uuid:b7e2ad7e-e291-43f4-8c33-95864a933508

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Autor: Ramita Dewan, Ruth Chia, Jinhui Ding, Richard Hickman, Thor Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla K. Portley, Arianna Tucci, Kristina Ibáñez, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L. Waldo, Per M. Johansson, Christer F. Nilsson, The American Genome Center (TAGC), The FALS Sequencing Consortium, The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium, The PROSPECT Consortium, James Rowe, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Edwin Jabbari, Coralie Viollet, Jonathan D. Glass, Andrew B. Singleton, Vincenzo Silani, Owen A. Ross, Mina Ryten, Ali Torkamani, Tanaka Toshiko, Luigi Ferrucci, Susan M. Resnick, Stuart Pickering-Brown, Christopher B. Brady, Neil Kowal, John A. Hardy, Vivianna Van Deerlin, Jean Paul Vonsattel, Matthew B. Harms, Huw R. Morris, Raffaele Ferrari, John E. Landers, Adriano Chiò, J. Raphael Gibbs, Clifton L. Dalgard, Sonja Scholz, Bryan J. Traynor

Publikováno v: SSRN Electronic Journal.

To examine the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), we performed repeat sizing of ten genetic loci previously implicated in neurodegenerative diseases. We examined who

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3cb451d0c2b8e8ff20a183fbec5c4919
https://doi.org/10.2139/ssrn.3652331

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

Autor: van der Lee, Sven J, Conway, Olivia J, Zettergren, Anna, Christensen, Kaare, Ertekin-Taner, Nilüfer, Scholz, Sonja W, Ramirez, Alfredo, Ruiz, Agustín, Slagboom, Eline, van der Flier, Wiesje M, Holstege, Henne, Mead, S., Synofzik, M., Andlauer, Till F M, van Swieten, J. C., Leber, I., Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Diez-Fairen, Monica, Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Simon-Sanchez, Javier, Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Blesa, R., Landqvist Waldö, M., Lleó, Alberto, 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., Zetterberg, Henrik, Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Razquin, C., Ortega-Cubero, S., Alonso, E., Nygaard, Marianne, Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Blauwendraat, Cornelis, Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Savage, Jeanne E, van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Mengel-From, Jonas, Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Jansen, Iris, Moreno-Grau, Sonia, Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Wagner, Michael, Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Baker, M., Josephs, K. A., Fortea, Juan, Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., Dopper, E. G. P., Seelaar, H., Logroscino, G., Capozzo, R., Novelli, V., Keogh, Michael J, Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H-H, Graff, C., Pasquier, F., Rollin, A., Blennow, Kaj, Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J., Momeni, P., Coppola, G., Skoog, Ingmar, Varpetian, A., Foroud, T. M., Levey, A. I., Kukull, W. A., Mendez, M. F., Ringman, J., Chui, H., Cotman, C., DeCarli, C., Friese, Manuel A, Geschwind, D. H., Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, Carrasquillo, Minerva M, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Kleineidam, Luca, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart N M, Alcolea, Daniel, Wiendl, Heinz, van den Akker, Erik, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, DESGESCO, EADB, IFGC, IPDGC, RiMod-FTD, Bank, Netherlands Brain, Boeve, Bradley F, Hernández, Isabel, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel J T, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, van Eijk, Kristel R, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Stringa, Najada, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande A L, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Chen, Jason A, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild I A, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT, Clarimón, Jordi

Publikováno v: 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
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-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 & DESGESCO (Dementia Genetics Spanish Consortium) 2020, ' 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, vol. 139, no. 5, pp. 959-962 . https://doi.org/10.1007/s00401-019-02107-8
Acta Neuropathologica
Acta neuropathologica 139(5), 959-962 (2020). doi:10.1007/s00401-019-02107-8

The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other neurodegenerative diseas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08e232742b5d2878a6e1cd88e83d667a
https://mediatum.ub.tum.de/1547001