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Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, ARUK Consortium, van der Lee, Sven J., Naj, Adam C., Bellenguez, Céline, Badarinarayan, Nandini ORCID: https://orcid.org/0000-0002-6944-748X, Jakobsdottir, Johanna, Kunkle, Brian W., Boland, Anne, Raybould, Rachel, Bis, Joshua C., Martin, Eden R., Grenier-Boley, Benjamin, Heilmann-Heimbach, Stefanie, Chouraki, Vincent, Kuzma, Amanda B., Sleegers, Kristel, Vronskaya, Maria, Ruiz, Agustin, Graham, Robert R., Olaso, Robert, Hoffmann, Per, Grove, Megan L., Vardarajan, Badri N., Hiltunen, Mikko, Nöthen, Markus M., White, Charles C., Hamilton-Nelson, Kara L., Epelbaum, Jacques, Maier, Wolfgang, Choi, Seung-Hoan, Beecham, Gary W., Dulary, Cécile, Herms, Stefan, Smith, Albert V., Funk, Cory C., Derbois, Céline, Forstner, Andreas J., Ahmad, Shahzad, Li, Hongdong, Bacq, Delphine, Harold, Denise, Satizabal, Claudia L., Valladares, Otto, Squassina, Alessio, Thomas, Rhodri, Brody, Jennifer A., Qu, Liming, Sánchez-Juan, Pascual, Morgan, Taniesha, Wolters, Frank J., Zhao, Yi, Sanchez Garcia, Florentino, Denning, Nicola, Fornage, Myriam, Malamon, John, Naranjo, Maria Candida Deniz, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Mosley, Thomas H., Dombroski, Beth, Wallon, David, Lupton, Michelle K., Dupuis, Josée, Whitehead, Patrice, Fratiglioni, Laura, Medway, Christopher, Jian, Xueqiu, Mukherjee, Shubhabrata, Keller, Lina, Brown, Kristelle, Lin, Honghuang, Cantwell, Laura B., Panza, Francesco, McGuinness, Bernadette, Moreno-Grau, Sonia, Burgess, Jeremy D, Solfrizzi, Vincenzo, Proitsi, Petra, Adams, Hieab H., Allen, Mariet, Seripa, Davide, Pastor, Pau, Cupples, L. Adrienne, Price, Nathan D., Hannequin, Didier, Frank-García, Ana, Levy, Daniel, Chakrabarty, Paramita, Caffarra, Paolo, Giegling, Ina, Beiser, Alexa S., Giedraitis, Vilmantas, Hampel, Harald, Garcia, Melissa E., Wang, Xue, Lannfelt, Lars, Mecocci, Patrizia, Eiriksdottir, Gudny, Crane, Paul K., Pasquier, Florence, Boccardi, Virginia, Henández, Isabel, Barber, Robert C., Scherer, Martin, Tarraga, Lluis, Adams, Perrie M., Leber, Markus, Chen, Yuning, Albert, Marilyn S., Riedel-Heller, Steffi, Emilsson, Valur, Beekly, Duane, Braae, Anne, Schmidt, Reinhold, Blacker, Deborah, Masullo, Carlo, Schmidt, Helena, Doody, Rachelle S., Spalletta, Gianfranco, Longstreth Jr, W. T., Fairchild, Thomas J., Bossù, Paola, Lopez, Oscar L., Frosch, Matthew P., Sacchinelli, Eleonora, Ghetti, Bernardino, Yang, Qiong, Huebinger, Ryan M., Jessen, Frank, Li, Shuo, Kamboh, M. Ilyas, Morris, John, Sotolongo-Grau, Oscar, Katz, Mindy J., Corcoran, Chris, Dunstan, Melanie, Braddel, Amy, Thomas, Charlene, Meggy, Alun, Marshall, Rachel, Gerrish, Amy, Chapman, Jade, Aguilar, Miquel, Taylor, Sarah, Hill, Matt, Díez Fairén, Mònica, Hodges, Angela, Vellas, Bruno, Soininen, Hilkka, Kloszewska, Iwona, Daniilidou, Makrina, Uphill, James, Patel, Yogen, Hughes, Joseph T., Lord, Jenny, Turton, James, Hartmann, Annette M., Cecchetti, Roberta, Fenoglio, Chiara, Serpente, Maria, Arcaro, Marina, Caltagirone, Carlo, Donata Orfei, Maria, Ciaramella, Antonio, Pichler, Sabrina, Mayhaus, Manuel, Gu, Wei, Lleó, Alberto, Fortea, Juan, Blesa, Rafael, Barber, Imelda S., Brookes, Keeley, Cupidi, Chiara, Maletta, Raffaele Giovanni, Carrell, David, Sorbi, Sandro, Moebus, Susanne, Urbano, Maria, Pilotto, Alberto, Kornhuber, Johannes, Bosco, Paolo, Todd, Stephen, Craig, David, Johnston, Janet, Gill, Michael, Lawlor, Brian, Lynch, Aoibhinn, Fox, Nick C., Hardy, John, Albin, Roger L., Apostolova, Liana G., Arnold, Steven E, Asthana, Sanjay, Atwood, Craig S., Baldwin, Clinton T., Barnes, Lisa L., Barral, Sandra, Beach, Thomas G., Becker, James T., Bigio, Eileen H., Bird, Thomas D., Boeve, Bradley F., Bowen, James D., Boxer, Adam, Burke, James R., Burns, Jeffrey M., Buxbaum, Joseph D., Cairns, Nigel J., Cao, Chuanhai, Carlson, Chris S., Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Ceballos Diaz, Carolina, Chui, Helena C., Clark, David G., Cribbs, David H., Crocco, Elizabeth A., DeCarli, Charles, Dick, Malcolm, Duara, Ranjan, Evans, Denis A., Faber, Kelley M., Fallon, Kenneth B., Fardo, David W., Farlow, Martin R., Ferris, Steven, Foroud, Tatiana M., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Gilbert, John R., Graff-Radford, Neill R ., Green, Robert C., Growdon, John H., Hamilton, Ronald L., Harrell, Lindy E., Honig, Lawrence S., Huentelman, Matthew J., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Abner, Erin, Jin, Lee-Way, Jun, Gyungah, Karydas, Anna, Kaye, Jeffrey A., Kim, Ronald, Kowall, Neil W., Kramer, Joel H., LaFerla, Frank M., Lah, James J., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lunetta, Kathryn L., Lyketsos, Constantine G., Marson, Daniel C., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McCormick, Wayne C., McCurry, Susan M., McDavid, Andrew N., McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Morris, John C., Murrell, Jill R., Myers, Amanda J., O'Bryant, Sid, Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Paulson, Henry L., Perry, William, Peskind, Elaine, Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reisberg, Barry, Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rogaeva, Ekaterina, Rosen, Howard J., Rosenberg, Roger N., Sager, Mark A., Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsatte, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Woltjer, Randall L., Wright, Clinton B., Yu, Chang-En, Yu, Lei, Garzia, Fabienne, Golamaully, Feroze, Septier, Gislain, Engelborghs, Sebastien, Vandenberghe, Rik, De Deyn, Peter P., Fernadez, Carmen Muñoz, Benito, Yoland Aladro, Thonberg, Hakan, Forsell, Charlotte, Lilius, Lena, Kinhult-Stählbom, Anne, Kilander, Lena, Brundin, RoseMarie, Concari, Letizia, Helisalmi, Seppo, Koivisto, Anne Maria, Haapasalo, Annakaisa, Dermecourt, Vincent, Fievet, Nathalie, Hanon, Olivier, Dufouil, Carole, Brice, Alexis, Ritchie, Karen, Dubois, Bruno, Himali, Jayanadra J., Keene, C. Dirk, Tschanz, JoAnn, Fitzpatrick, Annette L., Kukull, Walter A., Norton, Maria, Aspelund, Thor, Larson, Eric B., Munger, Ron, Rotter, Jerome I., Lipton, Richard B., Bullido, María J., Hofman, Albert, Montine, Thomas J., Coto, Eliecer, Boerwinkle, Eric, Petersen, Ronald C., Alvarez, Victoria, Rivadeneira, Fernando, Reiman, Eric M., Gallo, Maura, O'Donnell, Christopher J., Reisch, Joan S., Bruni, Amalia Cecilia, Royall, Donald R., Dichgans, Martin, Sano, Mary, Galimberti, Daniela, St George-Hyslop, Peter, Scarpini, Elio, Tsuang, Debby W., Mancuso, Michelangelo, Bonuccelli, Ubaldo, Winslow, Ashley R., Daniele, Antonio, Wu, Chuang-Kuo, Peters, Oliver, Nacmias, Benedetta, Riemenschneider, Matthias, Heun, Reinhard, Brayne, Carol, Rubinsztein, David C., Bras, Jose, Guerreiro, Rita, Al-Chalabi, Ammar, Shaw, Christopher E., Collinge, John, Mann, David, Tsolaki, Magda, Clarimón, Jordi, Sussams, Rebecca, Lovestone, Simon, O'Donovan, Michael ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Behrens, Timothy W., Mead, Simon, Goate, Alison M., Uitterlinden, Andre G., Holmes, Clive, Cruchaga, Carlos, Ingelsson, Martin, Bennett, David A., Powell, John, Golde, Todd E., Graff, Caroline, Jager, Philip L De, Morgan, Kevin, Ertekin-Taner, Nilufer, Combarros, Onofre, Psaty, Bruce M., Passmore, Peter, Younkin, Steven G., Berr, Claudine, Gudnason, Vilmundur, Rujescu, Dan, Dickson, Dennis W., Dartigues, Jean-François, DeStefano, Anita L., Ortega-Cubero, Sara, Hakonarson, Hakon, Campion, Dominique, Boada, Merce, Kauwe, John Keoni, Farrer, Lindsay A., Van Broeckhoven, Christine, Ikram, M Arfan, Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612, Haines, Jonathan L., Tzourio, Christophe, Launer, Lenore J., Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Mayeux, Richard, Deleuze, Jean-François, Amin, Najaf, Holmans, Peter A. ORCID: https://orcid.org/0000-0003-0870-9412, Pericak-Vance, Margaret A., Amouyel, Philippe, van Duijn, Cornelia M., Ramirez, Alfredo, Wang, Li-San, Lambert, Jean-Charles, Seshadri, Sudha, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, Schellenberg, Gerard D., GERAD/PERADES, CHARGE, ADGC and EADI 2017. Rare coding variants in PLCG2, ABI3 and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics 49 , pp. 1373-1384. 10.1038/ng.3916
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Jeong, Yun Ha, Ling, Jonathan P., Lin, Sophie Z., Donde, Aneesh N., Braunstein, Kerstin E., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Traynor, Bryan J., LaClair, Katherine D., Lloyd, Thomas E. and Wong, Philip C. 2017. Tdp-43 cryptic exons are highly variable between cell types. Molecular Neurodegeneration 12 10.1186/s13024-016-0144-x
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Jansen, Iris E., Ye, Hui, Heetveld, Sasja, Lechler, Marie C., Michels, Helen, Seinstra, Renée I., Lubbe, Steven J., Drouet, Valérie, Lesage, Suzanne, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Gibbs, J. Raphael, Nalls, Mike A., Ryten, Mina, Botia, Juan A., Vandrovcova, Jana, Simon-Sanchez, Javier, Castillo-Lizardo, Melissa, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K., Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M., Morris, Huw R., Brice, Alexis, Singleton, Andrew B., David, Della C., Nollen, Ellen A., Jain, Shushant, Shulman, Joshua M. and Heutink, Peter 2017. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biology 18 , 22. 10.1186/s13059-017-1147-9
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Morgan, Angharad, Touchard, Samuel, O'Hagan, Caroline, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259 and Morgan, Bryan ORCID: https://orcid.org/0000-0003-4075-7676 2017. The correlation between inflammatory biomarkers and polygenic risk score in Alzheimer's Disease. Journal of Alzheimer's Disease 56 (1) , pp. 25-36. 10.3233/JAD-160889
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Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Sims, Rebecca ORCID: https://orcid.org/0000-0002-3885-1199, Bannister, Christian ORCID: https://orcid.org/0000-0001-8558-9480, Harold, Denise, Vronskaya, Maria, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Badarinarayan, Nandini ORCID: https://orcid.org/0000-0002-6944-748X, Morgan, Kevin, Passmore, Peter, Holmes, Clive, Powell, John, Brayne, Carol, Gill, Michael, Mead, Simon, Goate, Alison, Cruchaga, Carlos, Lambert, Jean-Charles, van Duijn, Cornelia, Maier, Wolfgang, Ramirez, Alfredo, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Jones, Lesley ORCID: https://orcid.org/0000-0002-3007-4612, Hardy, John, Seshadri, Sudha, Schellenberg, Gerard D., Amouyel, Philippe, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, GERAD/PERADES and IGAP, Consortia 2015. Common polygenic variation enhances risk prediction for Alzheimer's disease. Brain 138 (12) , pp. 3673-3684. 10.1093/brain/awv268

Beilina, A., Rudenko, I. N., Kaganovich, A., Civiero, L., Chau, H., Kalia, S. K., Kalia, L. V., Lobbestael, E., Chia, R., Ndukwe, K., Ding, J., Nalls, M. A., Olszewski, M., Hauser, D. N., Kumaran, R., Lozano, A. M., Baekelandt, V., Greene, L. E., Taymans, J.-M., Greggio, E., Cookson, M. R., Nalls, M. A., Plagnol, V., Martinez, M., Hernandez, D. G., Sharma, M., Sheerin, U.-M., Saad, M., Simon-Sanchez, J., Schulte, C., Lesage, S., Sveinbjornsdottir, S., Arepalli, S., Barker, R., Ben-Shlomo, Y., Berendse, H. W., Berg, D., Bhatia, K., de Bie, R. M. A., Biffi, A., Bloem, B., Bochdanovits, Z., Bonin, M., Bras, J. M., Brockmann, K., Brooks, J., Burn, D. J., Charlesworth, G., Chen, H., Chong, S., Clarke, C. E., Cookson, M. R., Cooper, J. M., Corvol, J. C., Counsell, C., Damier, P., Dartigues, J.-F., Deloukas, P., Deuschl, G., Dexter, D. T., van Dijk, K. D., Dillman, A., Durif, F., Durr, A., Edkins, S., Evans, J. R., Foltynie, T., Gao, J., Gardner, M., Gibbs, J. R., Goate, A., Gray, E., Guerreiro, R., Gustafsson, O., Harris, C., van Hilten, J. J., Hofman, A., Hollenbeck, A., Holton, J., Hu, M., Huang, X., Huber, H., Hudson, G., Hunt, S. E., Huttenlocher, J., Illig, T., Munchen, H. Z., Jonsson, P. V., Lambert, J.-C., Langford, C., Lees, A., Lichtner, P., Munchen, H. Z., Limousin, P., Lopez, G., Lorenz, D., McNeill, A., Moorby, C., Moore, M., Morris, H., Morrison, K. E., Mudanohwo, E., O'Sullivan, S. S., Pearson, J., Perlmutter, J. S., Petursson, H., Pollak, P., Post, B., Potter, S., Ravina, B., Revesz, T., Riess, O., Rivadeneira, F., Rizzu, P., Ryten, M., Sawcer, S., Schapira, A., Scheffer, H., Shaw, K., Shoulson, I., Sidransky, E., Smith, C., Spencer, C. C. A., Stefansson, H., Steinberg, S., Stockton, J. D., Strange, A., Talbot, K., Tanner, C. M., Tashakkori-Ghanbaria, A., Tison, F., Trabzuni, D., Traynor, B. J., Uitterlinden, A. G., Velseboer, D., Vidailhet, M., Walker, R., van de Warrenburg, B., Wickremaratchi, M., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Williams-Gray, C. H., Winder-Rhodes, S., Stefansson, K., Hardy, J., Heutink, P., Brice, A., Gasser, T., Singleton, A. B., Wood, N. W., Chinnery, P. F., Arepalli, S., Cookson, M. R., Dillman, A., Ferrucci, L., Gibbs, J. R., Hernandez, D. G., Johnson, R., Longo, D. L., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Nalls, M. A., O'Brien, R., Singleton, A. B., Traynor, B. J., Troncoso, J., van der Brug, M., Zielke, H. R. and Zonderman, A. B. 2014. Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Proceedings of the National Academy of Sciences of the United States of America 111 (7) , pp. 2626-2631. 10.1073/pnas.1318306111

Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Cross, William, Newsway, Victoria, Dillman, Allissa, Vandrovcova, Jana, Morris, Christopher M., Nalls, Michael A., Ferrucci, Luigi, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Cookson, Mark R., Singleton, Andrew B., de Silva, Rohan and Morris, Huw R. 2013. Variation in tau isoform expression in different brain regions and disease states. Neurobiology of Aging 34 (7) , 1922.e7-1922.e12. 10.1016/j.neurobiolaging.2013.01.017

Guerreiro, Rita, Wojtas, Aleksandra, Bras, Jose, Carrasquillo, Minerva, Rogaeva, Ekaterina, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Cruchaga, Carlos, Sassi, Celeste, Kauwe, John S.K., Younkin, Steven, Hazrati, Lilinaz, Collinge, John, Pocock, Jennifer, Lashley, Tammaryn, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259, Lambert, Jean-Charles, Amouyel, Philippe, Goate, Alison, Rademakers, Rosa, Morgan, Kevin, Powell, John, St. George-Hyslop, Peter, Singleton, Andrew and Hardy, John 2013. TREM2Variants in Alzheimer's disease. New England Journal of Medicine 368 (2) , pp. 117-127. 10.1056/NEJMoa1211851

Kilarski, Laura, Pearson, Justin Peter, Newsway, Victoria Elizabeth, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Knipe, M. Duleeka W., Misbahuddin, Anjum, Chinnery, Patrick F., Burn, David J., Clarke, Carl E., Marion, Marie-Helene, Lewthwaite, Alistair J., Nicholl, David J., Wood, Nicholas W., Morrison, Karen E., Williams-Gray, Caroline H., Evans, Jonathan R., Sawcer, Stephen J., Barker, Roger A., Wickremaratchi, Mirdhu M., Ben-Shlomo, Yoav, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931 and Morris, Huw Rees 2012. Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1)andLRRK2in early-onset Parkinson's disease. Movement Disorders 27 (12) , pp. 1522-1529. 10.1002/mds.25132

Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Renton, Alan E., Mok, Kin, Dopper, Elise G. P., Waite, Adrian James, Rollinson, Sara, Chiò, Adriano, Restagno, Gabriella, Nicolaou, Nayia, Simon-Sanchez, Javier, van Swieten, John C., Abramzon, Yevgeniya, Johnson, Janel O., Sendtner, Michael, Pamphlett, Roger, Orrell, Richard W., Mead, Simon, Sidle, Katie C., Houlden, Henry, Rohrer, Jonathan D., Morrison, Karen E., Pall, Hardev, Talbot, Kevin, Ansorge, Olaf, Hernandez, Dena G., Arepalli, Sampath, Sabatelli, Mario, Mora, Gabriele, Corbo, Massimo, Giannini, Fabio, Calvo, Andrea, Englund, Elisabet, Borghero, Giuseppe, Floris, Gian Luca, Remes, Anne M., Laaksovirta, Hannu, McCluskey, Leo, Trojanowski, John Q., Van Deerlin, Vivianna M., Schellenberg, Gerard D., Nalls, Michael A., Drory, Vivian E., Lu, Chin-Song, Yeh, Tu-Hsueh, Ishiura, Hiroyuki, Takahashi, Yuji, Tsuji, Shoji, Le Ber, Isabelle, Brice, Alexis, Drepper, Carsten, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Kirby, Janine, Shaw, Pamela, Hardy, John, Tienari, Pentti J., Heutink, Peter, Morris, Huw R., Pickering-Brown, Stuart and Traynor, Bryan J. 2012. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet Neurology 11 (4) , pp. 323-330. 10.1016/S1474-4422(12)70043-1

Renton, Alan E., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Waite, Adrian James, 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 William, Murray, Alexandra, Pearson, Justin Peter, Jansen, Iris E., Sondervan, David, Seelaar, Harro, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731, 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 Melville ORCID: https://orcid.org/0000-0003-1177-6931, Heutink, Peter, Pickering-Brown, Stuart, Morris, Huw Rees, Tienari, Pentti J. and Traynor, Bryan J. 2011. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72 (2) , pp. 257-268. 10.1016/j.neuron.2011.09.010

Pearson, Justin P., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Waite, Adrian James, Stott, Jennifer, Newsway, Victoria, Murray, Alexandra, Hernandez, Dena, Guerreiro, Rita, Singleton, Andrew B., Neal, James William and Morris, Huw Rees 2011. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. Journal of Neurology 258 (4) , pp. 647-655. 10.1007/s00415-010-5815-x

Sharif, Saba, Upadhyaya, Meena, Ferner, Rosalie, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Shenton, Andrew, Baser, Michael, Thakker, Nalin and Evans, D. Gareth 2011. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. Journal of Medical Genetics 48 (4) , pp. 256-260. 10.1136/jmg.2010.081760

Pearson, J. P., Kilarski, L. L., Newsway, V., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Perera, D., Misbahuddin, A., Chinnery, P. F., Burn, D. J., Lewthwaite, A. J., Clarke, C. E., Morrison, K. E., Evans, J. R., Sawcer, S. J., Barker, R. A., Wickremaratchi, M. M., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931 and Morris, Huw 2010. Prevalence of mutations in Parkin, PINK1, and DJ-1 in early onset Parkinson's Disease - a community based and regional study [Conference Abstract]. Movement Disorders 25 (3) , S610-S610.

Newsway, Victoria Elizabeth, Fish, Mark, Rohrer, Jonathan D., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Hack, Melissa Anne, Warren, Jason D. and Morris, Huw Rees 2010. Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Movement Disorders 25 (6) , pp. 767-770. 10.1002/mds.22950

Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091 2009. Molecular dissection of neurofibromatosis type 1 tumorigenesis. PhD Thesis, Cardiff University.
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Wickremaratchi, Mindhu M., Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Morris, Huw Rees, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Lewis, Helen, Gill, Steven S., Khan, Sadaquate, Heywood, Peter, Hardy, John, Wiles, Charles Mark, Singleton, Andrew B. and Quinn, Niall P. 2009. Parkin-related disease clinically diagnosed as a pallido-pyramidal syndrome [Letter]. Movement Disorders 24 (1) , pp. 138-140. 10.1002/mds.22181

Wardle, Mark, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Muzaimi, Mustapha B., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Morris, Huw Rees and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2009. The genetic aetiology of late-onset chronic progressive cerebellar ataxia. Journal of Neurology 256 (3) , pp. 343-348. 10.1007/s00415-009-0015-2

Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Glaser, Beate, Morris, Huw Rees, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2008. Analysis of copy number variation using quantitative interspecies competitive PCR. Nucleic Acids Research 36 (17) , e112-e112. 10.1093/nar/gkn495

Upadhyaya, Meena, Kluwe, Lan, Spurlock, Gillian, Monem, Bisma Qamar, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Ruggieri, Martino, Chuzhanova, Nadia, Evans, D. G., Ferner, R., Thomas, Nicholas Stuart Tudor, Guha, A. and Mautner, Victor 2008. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Human Mutation 29 (1) , pp. 74-82. 10.1002/humu.20601

Wardle, M, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Rosser, Anne Elizabeth ORCID: https://orcid.org/0000-0002-4716-4753, Morris, Huw Rees and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2008. Dentatorubral pallidoluysian atrophy in South Wales. Journal of Neurology, Neurosurgery and Psychiatry 79 (7) , pp. 804-807. 10.1136/jnnp.2007.128074

Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Wardle, Mark, Muzaimi, M., Cross, W. C., Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931 and Morris, Huw Rees 2007. Case control analysis of repeat expansion size in ataxia. Neuroscience Letters 429 (1) , pp. 28-32. 10.1016/j.neulet.2007.09.055

Upadhyaya, Meena, Spurlock, Gillian, Kluwe, Lan, Mantripragada, Kiran Kumar ORCID: https://orcid.org/0000-0003-2070-8105, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Pandit, A., Evans, G., Guha, A., Dumanski, J., Ferner, R. and Mautner, V. 2006. Comparison of germline and somatic mutational spectra in NF1-associated peripheral nerve sheath tumours (MPNSTs). Journal of Medical Genetics 43 (S3) , S75-S75.

Upadhyaya, Meena, Spurlock, Gillian, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Griffiths, Sian, Forrester, Natalie, Baser, Mike, Huson, Susan M., Evans, Gareth and Ferner, Rosalie 2006. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). Hum Mutat 27 (7) , p. 716. 10.1002/humu.9429

Upadhyaya, Meena, Han, S., Consoli, Claudia, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Horan, M., Thomas, Nicholas Stuart, Potts, C., Griffiths, S., Ruggieri, M., von Deimling, A. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2004. Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Human Mutation 23 (2) , pp. 134-146. 10.1002/humu.10305

Upadhyaya, Meena, Majounie, Elisa ORCID: https://orcid.org/0000-0003-2800-1091, Thompson, P., Han, S., Consoli, Claudia, Krawczak, M., Cordeiro, I. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2003. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1. Human Genetics 112 (1) , pp. 12-17. 10.1007/s00439-002-0840-1

This list was generated on Wed Apr 16 08:36:28 2025 BST.


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