Lower autoimmune disease prevalence in patients with early onset Alzheimer’s disease compared to cognitively normal controls von Lachner, Christian, Roemer, Shanu F, Frontera, Natasha L., Li, Zhuo, White, Launia J, Olson, Janet E., Pottier, Cyril P, Dickson, Dennis W., Graff‐Radford, Neill R

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Clinical Manifestations von Lachner, Christian, Roemer, Shanu F, Frontera, Natasha L, Li, Zhuo, White, Launia J, Olson, Janet E, Pottier, Cyril P, Dickson, Dennis W, Graff-Radford, Neill R

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Investigating phenotypic modifiers of Alzheimer’s disease utilizing cellular and transcriptomic signatures of PSEN1 mutation carriers von Pottier, Cyril P, Lincoln, Sarah J., Boon, Baayla D.C., Wickland, Daniel P., Rothberg, Darren M., DeTure, Michael, Ertekin‐Taner, Nilufer, Graff‐Radford, Neill R, Dickson, Dennis W., Murray, Melissa E.

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An enrichment of rare variants and the lysosomal pathways are important contributors to early onset Alzheimer disease von Fernandez, Victoria, Pottier, Cyril P, Budde, John P., Wang, Fengxian, Norton, Joanne, Gentsch, Jen, Morris, John C., Goate, Alison M., Beecham, Gary W., Reitz, Christiane, Ertekin‐Taner, Nilufer, Dickson, Dennis W, Graff‐Radford, Neill R., Boeve, Bradley F., Petersen, Ronald C., Kauwe, John, Holstege, Henne, Hulsman, Marc, Bellenguez, Céline, Lambert, Jean‐Charles, Charbonnier, Camille, Consortia, ADES, Nicolas, Gaël, Rademakers, Rosa, Cruchaga, Carlos

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O3‐06‐02: POLYGENIC SCORE ANALYSIS OF EXONIC VARIANTS IN AN IMMUNE CO‐REGULATORY NETWORK IDENTIFIES NOVEL PROTEIN‐ALTERING VARIANTS THAT ASSOCIATE WITH ALZHEIMER'S DISEASE von Reddy, Joseph S., Allen, Mariet, Wang, Xue, Biernacka, Joanna M., Gregory, Jenkins D., Toral, Shastri M., McDonnell, Shannon K., Sarangi, Vivekananda, Sinnwell, Jason P., Asmann, Yan W., Carrasquillo, Minerva M., Pottier, Cyril P., Ren, Yingxue, Younkin, Curtis S., Rademakers, Rosa, Ross, Owen A., Ertekin-Taner, Nilufer, Younkin, Steven G.

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POLYGENIC SCORE ANALYSIS OF EXONIC VARIANTS IN AN IMMUNE CO-REGULATORY NETWORK IDENTIFIES NOVEL PROTEIN-ALTERING VARIANTS THAT ASSOCIATE WITH ALZHEIMER’S DISEASE von Reddy, Joseph S., Allen, Mariet, Wang, Xue, Biernacka, Joanna M., Gregory, Jenkins D., Toral, Shastri M., McDonnell, Shannon K., Sarangi, Vivekananda, Sinnwell, Jason P., Asmann, Yan W., Carrasquillo, Minerva M., Pottier, Cyril P., Ren, Yingxue, Younkin, Curtis S., Rademakers, Rosa, Ross, Owen A., Ertekin-Taner, Nilufer, Younkin, Steven G.

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TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics von Mackenzie, Ian R., Nicholson, Alexandra M., Sarkar, Mohona, Messing, James, Purice, Maria D., Pottier, Cyril, Annu, Kavya, Baker, Matt, Perkerson, Ralph B., Kurti, Aishe, Matchett, Billie J., Mittag, Tanja, Temirov, Jamshid, Hsiung, Ging-Yuek R., Krieger, Charles, Murray, Melissa E., Kato, Masato, Fryer, John D., Petrucelli, Leonard, Zinman, Lorne, Weintraub, Sandra, Mesulam, Marsel, Keith, Julia, Zivkovic, Sasha A., Hirsch-Reinshagen, Veronica, Roos, Raymond P., Züchner, Stephan, Graff-Radford, Neill R., Petersen, Ronald C., Caselli, Richard J., Wszolek, Zbigniew K., Finger, Elizabeth, Lippa, Carol, Lacomis, David, Stewart, Heather, Dickson, Dennis W., Kim, Hong Joo, Rogaeva, Ekaterina, Bigio, Eileen, Boylan, Kevin B., Taylor, J. Paul, Rademakers, Rosa

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Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients von Mol, Merel O., van Rooij, Jeroen G.J., Wong, Tsz H., Melhem, Shamiram, Verkerk, Annemieke J.M.H., Kievit, Anneke J.A., van Minkelen, Rick, Rademakers, Rosa, Pottier, Cyril, Kaat, Laura Donker, Seelaar, Harro, van Swieten, John C., Dopper, Elise G.P.

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Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification von NICOLAS, Gaël, POTTIER, Cyril, MARTINAUD, Olivier, DEFEBVRE, Luc, KRYSTKOWIAK, Pierre, PARIENTE, Jérémie, CLANET, Michel, LABAUGE, Pierre, AYRIGNAC, Xavier, LEFAUCHEUR, Romain, LE BER, Isabelle, FREBOURG, Thierry, MALTETE, David, HANNEQUIN, Didier, CAMPION, Dominique, COUTANT, Sophie, ROVELET-LECRUX, Anne, LEGALLIC, Solenn, ROUSSEAU, Stéphane, VASCHALDE, Yvan, GUYANT-MARECHAL, Lucie, AUGUSTIN, Jérôme

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Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studies von Wickland, Daniel P., Ren, Yingxue, Sinnwell, Jason P., Reddy, Joseph S., Pottier, Cyril, Sarangi, Vivekananda, Carrasquillo, Minerva M., Ross, Owen A., Younkin, Steven G., Ertekin-Taner, Nilufer, Rademakers, Rosa, Hudson, Matthew E., Mainzer, Liudmila Sergeevna, Biernacka, Joanna M., Asmann, Yan W.

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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia von Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.

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Identification of missing variants by combining multiple analytic pipelines von Ren, Yingxue, Reddy, Joseph S, Pottier, Cyril, Sarangi, Vivekananda, Tian, Shulan, Sinnwell, Jason P, McDonnell, Shannon K, Biernacka, Joanna M, Carrasquillo, Minerva M, Ross, Owen A, Ertekin-Taner, Nilüfer, Rademakers, Rosa, Hudson, Matthew, Mainzer, Liudmila Sergeevna, Asmann, Yan W

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The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer’s disease: A cross-sectional study von Matchett, Billie J., Lincoln, Sarah J., Baker, Matt, Tamvaka, Nikoleta, Labuzan, Sydney A., Hicks Sirmans, Tiffany N., Moloney, Christina M., Helminger, Jacqueline, Hinkle, Kelly M., Cabrera-Rodriguez, Janisse, Wickland, Daniel P., Johnson, Patrick W., Heckman, Michael G., Reddy, Joseph S., Younkin, Steven G., Carrasquillo, Minerva M., Duara, Ranjan, Graff-Radford, Neill R., Pottier, Cyril, Ertekin-Taner, Nilüfer, Ross, Owen A., Rademakers, Rosa, Dickson, Dennis W., Murray, Melissa E.

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