TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
Finch, N, Carrasquillo, M M, Baker, M, Rutherford, N J, Coppola, G, Dejesus-Hernandez, M, Crook, R, Hunter, T, Ghidoni, R, Benussi, L, Crook, J, Finger, E, Hantanpaa, K J, Karydas, A M, Sengdy, P, Gonzalez, J, Seeley, W W, Johnson, N, Beach, T G, Mesulam, M, Forloni, G, Kertesz, A, Knopman, D S, Uitti, R, White, 3rd, C L, Caselli, R, Lippa, C, Bigio, E H, Wszolek, Z K, Binetti, G, Mackenzie, I R, Miller, B L, Boeve, B F, Younkin, S G, Dickson, D W, Petersen, R C, Graff-Radford, N R, Geschwind, D H, Rademakers, R
Published in Neurology (01.02.2011)
Published in Neurology (01.02.2011)
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
Bonham, Luke W, Steele, Natasha Z R, Karch, Celeste M, Broce, Iris, Geier, Ethan G, Wen, Natalie L, Momeni, Parastoo, Hardy, John, Miller, Zachary A, Gorno-Tempini, Maria Luisa, Hess, Christopher P, Lewis, Patrick, Miller, Bruce L, Seeley, William W, Manzoni, Claudia, Desikan, Rahul S, Baranzini, Sergio E, Ferrari, Raffaele, Yokoyama, Jennifer S
Published in Scientific reports (26.07.2019)
Published in Scientific reports (26.07.2019)
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Diagnostic value of plasma phosphorylated tau181 in Alzheimer's disease and frontotemporal lobar degeneration
Thijssen, Elisabeth H, La Joie, Renaud, Wolf, Amy, Strom, Amelia, Wang, Ping, Iaccarino, Leonardo, Bourakova, Viktoriya, Cobigo, Yann, Heuer, Hilary, Spina, Salvatore, VandeVrede, Lawren, Chai, Xiyun, Proctor, Nicholas K, Airey, David C, Shcherbinin, Sergey, Duggan Evans, Cynthia, Sims, John R, Zetterberg, Henrik, Blennow, Kaj, Karydas, Anna M, Teunissen, Charlotte E, Kramer, Joel H, Grinberg, Lea T, Seeley, William W, Rosen, Howie, Boeve, Bradley F, Miller, Bruce L, Rabinovici, Gil D, Dage, Jeffrey L, Rojas, Julio C, Boxer, Adam L
Published in Nature medicine (01.03.2020)
Published in Nature medicine (01.03.2020)
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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
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, Ironside, James W., van Berckel, Bart N. M., 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
Published in Acta neuropathologica (01.08.2019)
Published in Acta neuropathologica (01.08.2019)
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Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
LEE, Suzee E, KHAZENZON, Anna M, PRIBADI, Mochtar, GESCHWIND, Daniel H, RADEMAKERS, Rosa, FONG, Jamie C, WEINER, Michael W, BOXER, Adam L, KRAMER, Joel H, ROSEN, Howard J, MILLER, Bruce L, SEELEY, William W, TRUJILLO, Andrew J, GUO, Christine C, YOKOYAMA, Jennifer S, SHA, Sharon J, TAKADA, Leonel T, KARYDAS, Anna M, BLOCK, Nikolas R, COPPOLA, Giovanni
Published in Brain (London, England : 1878) (01.11.2014)
Published in Brain (London, England : 1878) (01.11.2014)
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Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases
Ferrari, Raffaele, Wang, Yunpeng, Vandrovcova, Jana, Guelfi, Sebastian, Witeolar, Aree, Karch, Celeste M, Schork, Andrew J, Fan, Chun C, Brewer, James B, Momeni, Parastoo, Schellenberg, Gerard D, Dillon, William P, Sugrue, Leo P, Hess, Christopher P, Yokoyama, Jennifer S, Bonham, Luke W, Rabinovici, Gil D, Miller, Bruce L, Andreassen, Ole A, Dale, Anders M, Hardy, John, Desikan, Rahul S
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2017)
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CXCR4 involvement in neurodegenerative diseases
Bonham, Luke W, Karch, Celeste M, Fan, Chun C, Tan, Chin, Geier, Ethan G, Wang, Yunpeng, Wen, Natalie, Broce, Iris J, Li, Yi, Barkovich, Matthew J, Ferrari, Raffaele, Hardy, John, Momeni, Parastoo, Höglinger, Günter, Müller, Ulrich, Hess, Christopher P, Sugrue, Leo P, Dillon, William P, Schellenberg, Gerard D, Miller, Bruce L, Andreassen, Ole A, Dale, Anders M, Barkovich, A James, Yokoyama, Jennifer S, Desikan, Rahul S
Published in Translational psychiatry (11.04.2018)
Published in Translational psychiatry (11.04.2018)
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Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
Taskesen, E, Mishra, A, van der Sluis, S, Ferrari, R, Veldink, J H, van Es, M A, Smit, A B, Posthuma, D, Pijnenburg, Y
Published in Scientific reports (21.08.2017)
Published in Scientific reports (21.08.2017)
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Author Correction: Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS
Taskesen, E, Mishra, A, van der Sluis, S, Ferrari, R, Veldink, J H, van Es, M A, Smit, A B, Posthuma, D, Pijnenburg, Y
Published in Scientific reports (14.05.2018)
Published in Scientific reports (14.05.2018)
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Protein network analysis reveals selectively vulnerable regions and biological processes in FTD
Bonham, Luke W, Steele, Natasha Z R, Karch, Celeste M, Manzoni, Claudia, Geier, Ethan G, Wen, Natalie, Ofori-Kuragu, Aaron, Momeni, Parastoo, Hardy, John, Miller, Zachary A, Hess, Christopher P, Lewis, Patrick, Miller, Bruce L, Seeley, William W, Baranzini, Sergio E, Desikan, Rahul S, Ferrari, Raffaele, Yokoyama, Jennifer S
Published in Neurology. Genetics (01.10.2018)
Published in Neurology. Genetics (01.10.2018)
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Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative
Rademakers, Rosa, PhD, Baker, Matt, BSc, Gass, Jennifer, BS, Adamson, Jennifer, BS, Huey, Edward D, MD, Momeni, Parastoo, PhD, Spina, Salvatore, MD, Coppola, Giovanni, MD, Karydas, Anna M, BA, Stewart, Heather, PhD, Johnson, Nancy, PhD, Hsiung, Ging-Yuek, MD, Kelley, Brendan, MD, Kuntz, Karen, RN, Steinbart, Ellen, MA, Wood, Elisabeth McCarty, MS, Yu, Chang-En, PhD, Josephs, Keith, MD, Sorenson, Eric, MD, Womack, Kyle B, MD, Weintraub, Sandra, PhD, Pickering-Brown, Stuart M, PhD, Schofield, Peter R, DSc, Brooks, William S, MBBS, Van Deerlin, Vivianna M, MD, Snowden, Julie, PhD, Clark, Christopher M, MD, Kertesz, Andrew, MD, Boylan, Kevin, MD, Ghetti, Bernardino, MD, Neary, David, FRCP, Schellenberg, Gerard D, PhD, Beach, Thomas G, FRCPC, Mesulam, Marsel, MD, Mann, David, PhD, Grafman, Jordan, PhD, Mackenzie, Ian R, MD, Feldman, Howard, MD, Bird, Thomas, MD, Petersen, Ron, MD, Knopman, David, MD, Boeve, Bradley, MD, Geschwind, Dan H, MD, Miller, Bruce, MD, Wszolek, Zbigniew, MD, Lippa, Carol, MD, Bigio, Eileen H, MD, Dickson, Dennis, MD, Graff-Radford, Neill, FRCP, Hutton, Mike, PhD
Published in Lancet neurology (01.10.2007)
Published in Lancet neurology (01.10.2007)
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