State of play in amyotrophic lateral sclerosis genetics von Renton, Alan E, Chiò, Adriano, Traynor, Bryan J

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PINK1 cleavage at position A103 by the mitochondrial protease PARL von DEAS, Emma, PLUN-FAVREAU, Helene, ABRAMOV, Andrey Y, WOOD, Nicholas W, GANDHI, Sonia, DESMOND, Howard, KJAER, Svend, LOH, Samantha H. Y, RENTON, Alan E. M, HARVEY, Robert J, WHITWORTH, Alexander J, MARTINS, L. Miguel

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD von Renton, Alan E., Majounie, Elisa, Waite, Adrian, Simón-Sánchez, Javier, Rollinson, Sara, Gibbs, J. Raphael, Schymick, Jennifer C., Laaksovirta, Hannu, van Swieten, John C., Myllykangas, Liisa, Kalimo, Hannu, Paetau, Anders, Abramzon, Yevgeniya, Remes, Anne M., Kaganovich, Alice, Scholz, Sonja W., Duckworth, Jamie, Ding, Jinhui, Harmer, Daniel W., Hernandez, Dena G., Johnson, Janel O., Mok, Kin, Ryten, Mina, Trabzuni, Danyah, Guerreiro, Rita J., Orrell, Richard W., Neal, James, Murray, Alex, Pearson, Justin, Jansen, Iris E., Sondervan, David, Seelaar, Harro, Blake, Derek, Young, Kate, Halliwell, Nicola, Callister, Janis Bennion, Toulson, Greg, Richardson, Anna, Gerhard, Alex, Snowden, Julie, Mann, David, Neary, David, Nalls, Michael A., Peuralinna, Terhi, Jansson, Lilja, Isoviita, Veli-Matti, Kaivorinne, Anna-Lotta, Hölttä-Vuori, Maarit, Ikonen, Elina, Sulkava, Raimo, Benatar, Michael, Wuu, Joanne, Chiò, Adriano, Restagno, Gabriella, Borghero, Giuseppe, Sabatelli, Mario, Heckerman, David, Rogaeva, Ekaterina, Zinman, Lorne, Rothstein, Jeffrey D., Sendtner, Michael, Drepper, Carsten, Eichler, Evan E., Alkan, Can, Abdullaev, Ziedulla, Pack, Svetlana D., Dutra, Amalia, Pak, Evgenia, Hardy, John, Singleton, Andrew, Williams, Nigel M., Heutink, Peter, Pickering-Brown, Stuart, Morris, Huw R., Tienari, Pentti J., Traynor, Bryan J.

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The complex genetic architecture of Alzheimer's disease: novel insights and future directions von Andrews, Shea J., Renton, Alan E., Fulton-Howard, Brian, Podlesny-Drabiniok, Anna, Marcora, Edoardo, Goate, Alison M.

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Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer's disease risk von Novikova, Gloriia, Andrews, Shea J, Renton, Alan E, Marcora, Edoardo

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Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases von Pedicone, Chiara, Weitzman, Sarah A, Renton, Alan E, Goate, Alison M

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17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes von Bowles, Kathryn R, Pugh, Derian A, Liu, Yiyuan, Patel, Tulsi, Renton, Alan E, Bandres-Ciga, Sara, Gan-Or, Ziv, Heutink, Peter, Siitonen, Ari, Bertelsen, Sarah, Cherry, Jonathan D, Karch, Celeste M, Frucht, Steven J, Kopell, Brian H, Peter, Inga, Park, Y J, Charney, Alexander, Raj, Towfique, Crary, John F, Goate, A M

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Genome-Wide Association Study of Cardiovascular Resilience Identifies Protective Variation in the CETP Gene von Yu, Chenglong, Bakshi, Andrew, Watts, Gerald F, Renton, Alan E, Fulton-Howard, Brian, Goate, Alison M, Natarajan, Pradeep, Chasman, Daniel I, Robman, Liubov, Woods, Robyn L, Guymer, Robyn, Wolfe, Rory, Thao, Le Thi Phuong, McNeil, John J, Tonkin, Andrew M, Nicholls, Stephen J, Lacaze, Paul

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C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten von Stopford, Matthew J, Higginbottom, Adrian, Hautbergue, Guillaume M, Cooper-Knock, Johnathan, Mulcahy, Padraig J, De Vos, Kurt J, Renton, Alan E, Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Traynor, Bryan J, Azzouz, Mimoun, Heath, Paul R, Kirby, Janine, Shaw, Pamela J

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Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion von Fratta, Pietro, Polke, James M, Newcombe, Jia, Mizielinska, Sarah, Lashley, Tammaryn, Poulter, Mark, Beck, Jon, Preza, Elisavet, Devoy, Anny, Sidle, Katie, Howard, Robin, Malaspina, Andrea, Orrell, Richard W, Clarke, Jan, Lu, Ching-Hua, Mok, Kin, Collins, Toby, Shoaii, Maryam, Nanji, Tina, Wray, Selina, Adamson, Gary, Pittman, Alan, Renton, Alan E, Traynor, Bryan J, Sweeney, Mary G, Revesz, Tamas, Houlden, Henry, Mead, Simon, Isaacs, Adrian M, Fisher, Elizabeth M.C

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The innate immunity protein IFITM3 modulates γ-secretase in Alzheimer’s disease von Hur, Ji-Yeun, Frost, Georgia R., Wu, Xianzhong, Crump, Christina, Pan, Si Jia, Wong, Eitan, Barros, Marilia, Li, Thomas, Nie, Pengju, Zhai, Yujia, Wang, Jen Chyong, TCW, Julia, Guo, Lei, McKenzie, Andrew, Ming, Chen, Zhou, Xianxiao, Wang, Minghui, Sagi, Yotam, Renton, Alan E., Esposito, Bianca T., Kim, Yong, Sadleir, Katherine R., Trinh, Ivy, Rissman, Robert A., Vassar, Robert, Zhang, Bin, Johnson, Douglas S., Masliah, Eliezer, Greengard, Paul, Goate, Alison, Li, Yue-Ming

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Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes von Huq, Aamira J., Fulton‐Howard, Brian, Riaz, Moeen, Laws, Simon, Sebra, Robert, Ryan, Joanne, Renton, Alan E., Goate, Alison M., Masters, Colin L., Storey, Elsdon, Shah, Raj C., Murray, Anne, McNeil, John, Winship, Ingrid, James, Paul A., Lacaze, Paul

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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis von Johnson, Janel O, Pioro, Erik P, Boehringer, Ashley, Chia, Ruth, Feit, Howard, Renton, Alan E, Pliner, Hannah A, Abramzon, Yevgeniya, Marangi, Giuseppe, Winborn, Brett J, Gibbs, J Raphael, Nalls, Michael A, Morgan, Sarah, Shoai, Maryam, Hardy, John, Pittman, Alan, Orrell, Richard W, Malaspina, Andrea, Sidle, Katie C, Fratta, Pietro, Harms, Matthew B, Baloh, Robert H, Pestronk, Alan, Weihl, Conrad C, Rogaeva, Ekaterina, Zinman, Lorne, Drory, Vivian E, Borghero, Giuseppe, Mora, Gabriele, Calvo, Andrea, Rothstein, Jeffrey D, Drepper, Carsten, Sendtner, Michael, Singleton, Andrew B, Taylor, J Paul, Cookson, Mark R, Restagno, Gabriella, Sabatelli, Mario, Bowser, Robert, Chiò, Adriano, Traynor, Bryan J

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A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease von Huang, Kuan-lin, Marcora, Edoardo, Pimenova, Anna A, Di Narzo, Antonio F, Kapoor, Manav, Jin, Sheng Chih, Harari, Oscar, Bertelsen, Sarah, Fairfax, Benjamin P, Czajkowski, Jake, Chouraki, Vincent, Grenier-Boley, Benjamin, Bellenguez, Céline, Deming, Yuetiva, McKenzie, Andrew, Raj, Towfique, Renton, Alan E, Budde, John, Smith, Albert, Fitzpatrick, Annette, Bis, Joshua C, DeStefano, Anita, Adams, Hieab H H, Ikram, M Arfan, van der Lee, Sven, Del-Aguila, Jorge L, Fernandez, Maria Victoria, Ibañez, Laura, Sims, Rebecca, Escott-Price, Valentina, Mayeux, Richard, Haines, Jonathan L, Farrer, Lindsay A, Pericak-Vance, Margaret A, Lambert, Jean Charles, van Duijn, Cornelia, Launer, Lenore, Seshadri, Sudha, Williams, Julie, Amouyel, Philippe, Schellenberg, Gerard D, Zhang, Bin, Borecki, Ingrid, Kauwe, John S K, Cruchaga, Carlos, Hao, Ke, Goate, Alison M

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Large‐scale sequencing studies expand the known genetic architecture of Alzheimer's disease von Xue, Diane, Bush, William S., Renton, Alan E., Marcora, Edoardo A., Bis, Joshua C., Kunkle, Brian W., Boerwinkle, Eric, DeStefano, Anita L., Farrer, Lindsay, Goate, Alison, Mayeux, Richard, Pericak‐Vance, Margaret, Schellenberg, Gerard, Seshadri, Sudha, Wijsman, Ellen, Haines, Jonathan L., Blue, Elizabeth E.

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Dementia risk scores, apolipoprotein E, and risk of Alzheimer's disease: One size does not fit all von Andrews, Shea J., Boeriu, Ana I., Belloy, Michael E., Renton, Alan E., Fulton‐Howard, Brian, Brenowitz, Willa D., Yaffe, Kristine

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Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups von Kaivola, Karri, Shah, Zalak, Chia, Ruth, Scholz, Sonja W

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A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data von Zhao, Linhai, He, Zongxiao, Zhang, Di, Wang, Gao T., Renton, Alan E., Vardarajan, Badri N., Nothnagel, Michael, Goate, Alison M., Mayeux, Richard, Leal, Suzanne M.

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Whole genome sequencing identifies loci specifically associated with thoracic aortic wall defects and abdominal aortic aneurysms in patients with European ancestry von Miner, Grace H., Renton, Alan E., Taubenfeld, Ella, Tadros, Rami O., Marcora, Edoardo, Lookstein, Robert A., Faries, Peter L., Marin, Michael L.

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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 von CHIO, Adriano, BORGHERO, Giuseppe, PUGLIATTI, Maura, SOTGIU, Maria Alessandra, MURRU, Maria Rita, MARROSU, Maria Giovanna, MARROSU, Francesco, MARINOU, Kalliopi, MANDRIOLI, Jessica, SOLA, Patrizia, CAPONNETTO, Claudia, MANCARDI, Gianluigi, RESTAGNO, Gabriella, MANDICH, Paola, BELLA, Vincenzo La, SPATARO, Rossella, CONTE, Amelia, MONSURRO, Maria Rosaria, TEDESCHI, Gioacchino, PISANO, Fabrizio, BARTOLOMEI, Ilaria, SALVI, Fabrizio, PINTER, Giuseppe Lauria, MORA, Gabriele, SIMONE, Isabella, LOGROSCINO, Giancarlo, GAMBARDELLA, Antonio, QUATTRONE, Aldo, LUNETTA, Christian, VOLANTI, Paolo, ZOLLINO, Marcella, PENCO, Silvana, BATTISTINI, Stefania, RENTON, Alan E, DREPPER, Carsten, MAJOUNIE, Elisa, ABRAMZON, Yevgeniya, CONFORTI, Francesca Luisa, GIANNINI, Fabio, CORBO, Massimo, SABATELLI, Mario, TRAYNOR, Bryan J, SENDTNER, Michael, BRUNETTI, Maura, OSSOLA, Irene, CALVO, Andrea

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