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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.

    Veröffentlicht in Neuron (Cambridge, Mass.)

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    Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis von Noyce, Alastair J., Hemani, Gibran, Mora, Gabriele, Bartolomei, Ilaria, Benigni, Michele, Borghero, Giuseppe, Brunetti, Maura, Calvo, Andrea, Cammarosano, Stefania, Cannas, Antonino, Caponnetto, Claudia, Casale, Federico, Cavallaro, Sebastiano, Chiò, Adriano, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Corrado, Lucia, Costantino, Emanuela, D'Alfonso, Sandra, Femiano, Cinzia, Ferrarese, Carlo, Fini, Nicola, Floris, Gianluca, Grassano, Maurizio, Lattante, Serena, Logroscino, Giancarlo, Loi, Daniela, Mancardi, Gianluigi, Mandich, Paola, Manera, Umberto, Marinou, Kalliopi, Marrali, Giuseppe, Marrosu, Maria Giovanna, Mazzini, Letizia, Melis, Maurizio, Messina, Sonia, Mora, Gabriele, Occhineri, Patrizia, Origone, Paola, Pani, Carla, Petrucci, Antonio, Pirisi, Angelo, Restagno, Gabriella, Ricci, Claudia, Riva, Nilo, Sabatelli, Mario, Santarelli, Marialuisa, Spataro, Rossella, Tanel, Raffaella, Tremolizzo, Lucio, Volanti, Paolo, Zollino, Marcella, Arepalli, Sampath, Bowser, Robert, Broach, James, Camu, William, Chia, Ruth, Chiò, Adriano, Ding, Jinhui, Dunckley, Travis L., Eicher, John D., Faghri, Faraz, Feldman, Eva, Fratta, Pietro, Geiger, Joshua T., Gerhard, Glenn, Hardy, John, Harms, Matthew B., Heiman‐Patterson, Terry D., Kamel, Freya, MacGowan, Daniel J.L., Maragakis, Nicholas J., Murphy, Natalie A., Myllykangas, Liisa, Nalls, Mike A., Nicolas, Aude, Orrell, Richard W., Pamphlett, Roger, Pickering‐Brown, Stuart, Pioro, Erik, Pliner, Hannah A., Pulst, Stefan M., Ravits, John M., Rothstein, Jeffrey D., Salvi, Erika, Sendtner, Michael, Simmons, Zachary, Stone, David C., Sulkava, Raimo, Troncoso, Juan C., Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Tienari, Pentti J., Stone, David J., Nalls, Mike A., Singleton, Andrew B., Traynor, Bryan J.

    Veröffentlicht in Annals of neurology

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    Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study von Majounie, Elisa, PhD, Renton, Alan E, PhD, Mok, Kin, MSc, Dopper, Elise GP, Waite, Adrian, PhD, Rollinson, Sara, PhD, Chiò, Adriano, MD, Restagno, Gabriella, MD, Nicolaou, Nayia, MSc, Simon-Sanchez, Javier, PhD, van Swieten, John C, Prof, Abramzon, Yevgeniya, Johnson, Janel O, PhD, Sendtner, Michael, Prof, Pamphlett, Roger, MD, Orrell, Richard W, MD, Mead, Simon, MD, Sidle, Katie C, MD, Houlden, Henry, Prof, Rohrer, Jonathan D, MD, Morrison, Karen E, Prof, Pall, Hardev, MD, Talbot, Kevin, Prof, Ansorge, Olaf, MD, Hernandez, Dena G, MSc, Arepalli, Sampath, MS, Sabatelli, Mario, MD, Mora, Gabriele, MD, Corbo, Massimo, MD, Giannini, Fabio, MD, Calvo, Andrea, MD, Englund, Elisabet, MD, Borghero, Giuseppe, MD, Floris, Gian Luca, MD, Remes, Anne M, Prof, Laaksovirta, Hannu, MD, McCluskey, Leo, MD, Trojanowski, John Q, Prof, Van Deerlin, Vivianna M, MD, Schellenberg, Gerard D, Prof, Nalls, Michael A, PhD, Drory, Vivian E, MD, Lu, Chin-Song, Prof, Yeh, Tu-Hsueh, MD, Ishiura, Hiroyuki, MD, Takahashi, Yuji, MD, Tsuji, Shoji, Prof, Le Ber, Isabelle, MD, Brice, Alexis, Prof, Drepper, Carsten, PhD, Williams, Nigel, PhD, Kirby, Janine, PhD, Shaw, Pamela, Prof, Hardy, John, Prof, Tienari, Pentti J, MD, Heutink, Peter, Prof, Morris, Huw R, MD, Pickering-Brown, Stuart, Prof, Traynor, Bryan J, Dr

    Veröffentlicht in Lancet neurology

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    Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data von Saez-Atienzar, Sara, Souza, Cleide dos Santos, Chia, Ruth, Burciu, Camelia, Gibbs, J. Raphael, Jones, Ashley, Dewan, Ramita, Pensato, Viviana, Corrado, Lucia, van Vugt, Joke J.F.A., van Rheenen, Wouter, Camu, William, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Hardy, John, Landers, John E., Guissart, Claire, MacGowan, Daniel JL, Mouzat, Kevin, Myllykangas, Liisa, Pulst, Stefan M., Ravits, John M., Renton, Alan E., Rogaeva, Ekaterina, Salvi, Erika, Scholz, Sonja W., Tienari, Pentti J., Valori, Miko, Van Damme, Philip, Zinman, Lorne, Barberis, Marco, Bersano, Enrica, Bisogni, Giulia, Canale, Fabrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Ferrarese, Carlo, Greco, Lucia, La Bella, Vincenzo, Marrosu, Maria Giovanna, Messina, Sonia, Moglia, Cristina, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Russo, Massimo, Salvi, Fabrizio, Santarelli, Marialuisa, Sideri, Riccardo, Vasta, Rosario, Zucchi, Elisabetta, Ticozzi, Nicola, Tiloca, Cinzia, Peverelli, Silvia, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Corrado, Lucia, Sorarù, Gianni, Corcia, Philippe, Vourc'h, Patrick, Gotkine, Marc, Drory, Vivian, Berg, Leonard H., Andersen, Peter, Tiloca, Cinzia, Verde, Federico, Al Khleifat, Ahmad, Piccinelli, Stefano Cotti, Padovani, Alessandro, Calvo, Andrea, Canosa, Antonio, Lunetta, Christian, Cardinali, Patrizio, Scarpini, Elio, Comi, Giacomo P., Pinter, Giuseppe Lauria, Taroni, Franco, Bella, Eleonora Dalla, Adeleye, Adelani, McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, McLaughlin, Russell, Sorarù, Gianni, Ratti, Antonia, Doucet-O’Hare, Tara, Nath, Avindra, Siciliano, Gabriele, Glass, Jonathan D., Ferraiuolo, Laura

    Veröffentlicht in Cell genomics

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