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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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    Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis von Johnson, Janel O, Li, Rachel, Kumaran, Ravindran, Alahmady, Nada, Renton, Alan E, Topp, Simon D, Gibbs, J. Raphael, Cookson, Mark R, Troakes, Claire, Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Blair, Ian P, Kwok, John B, Bonkowski, Emily S, Shaw, Pamela J, Calvo, Andrea, Al-Saif, Hind, Leigh, Fawn, Scott, Anna I, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Fallini, Claudia, Topp, Simon D, Keagle, Pamela, Pensato, Viviana, McLaughlin, Russell L, Stevic, Zorica, D’Alfonso, Sandra, Comi, Giacomo P, Del Bo, Roberto, Rademakers, Rosa, Corti, Stefania, Cereda, Cristina, Veldink, Jan H, van den Berg, Leonard H, García-Redondo, Alberto, Gellera, Cinzia, Ratti, Antonia, Viollet, Coralie, Hupalo, Daniel N, Ahmed, Sarah, Bowser, Robert, Brady, Christopher B, Campbell, Roy H, Cooper-Knock, John, Eicher, John D, Faghri, Faraz, Floeter, Mary Kay, Fratta, Pietro, Glass, Jonathan D, Hardy, John, Hernandez, Dena G, Jansson, Lilja, Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Maragakis, Nicholas J, Nalls, Mike A, Rothstein, Jeffrey D, Sendtner, Michael, Sidle, Katie C, Simmons, Zachary, Troncoso, Juan C, Chiò, Adriano, Angelocola, Stefania M, Ausiello, Francesco P, Barberis, Marco, Bersano, Enrica, Borghero, Giuseppe, Brunetti, Maura, Canale, Fabrizio, Conforti, Francesca L, Dalla Bella, Eleonora, DeMarco, Giovanni, Filippi, Massimo, Fini, Nicola, Gallone, Salvatore, Grassano, Maurizio, Greco, Lucia, La Bella, Vincenzo, Lauria, Giuseppe, Logroscino, Giancarlo, Logullo, Francesco O, Lunetta, Christian, Mandrioli, Jessica, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Quattrini, Angelo, Salvi, Fabrizio, Sbaiz, Luca, Simonini, Cecilia, Tedeschi, Gioacchino, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta

    Veröffentlicht in JAMA neurology

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