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    BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations von Peron, Angela, D'Arco, Felice, Aldinger, Kimberly A, Smith-Hicks, Constance, Zweier, Christiane, Gradek, Gyri A, Bradbury, Kimberley, Accogli, Andrea, Andersen, Erica F, Au, Ping Yee Billie, Battini, Roberta, Beleford, Daniah, Bird, Lynne M, Bouman, Arjan, Bruel, Ange-Line, Busk, Øyvind Løvold, Campeau, Philippe M, Capra, Valeria, Carlston, Colleen, Carmichael, Jenny, Chassevent, Anna, Clayton-Smith, Jill, Bamshad, Michael J, Earl, Dawn L, Faivre, Laurence, Philippe, Christophe, Ferreira, Patrick, Graul-Neumann, Luitgard, Green, Mary J, Haffner, Darrah, Haldipur, Parthiv, Hanna, Suhair, Houge, Gunnar, Jones, Wendy D, Kraus, Cornelia, Kristiansen, Birgit Elisabeth, Lespinasse, James, Low, Karen J, Lynch, Sally Ann, Maia, Sofia, Mao, Rong, Kalinauskiene, Ruta, Melver, Catherine, McDonald, Kimberly, Montgomery, Tara, Morleo, Manuela, Motter, Constance, Openshaw, Amanda S, Palumbos, Janice Cox, Parikh, Aditi Shah, Perilla-Young, Yezmin, Powell, Cynthia M, Person, Richard, Desai, Megha, Piard, Juliette, Pfundt, Rolph, Scala, Marcello, Serey-Gaut, Margaux, Shears, Deborah, Slavotinek, Anne, Suri, Mohnish, Turner, Claire, Tvrdik, Tatiana, Weiss, Karin, Wentzensen, Ingrid M, Zollino, Marcella, Hsieh, Tzung-Chien, de Vries, Bert B A, Guillemot, Francois, Dobyns, William B, Viskochil, David, Dias, Cristina


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    Genome-wide Analyses Identify KIF5A as a Novel ALS Gene von Kenna, Kevin P., Chia, Ruth, Dominov, Janice A., Nalls, Mike A., van Vugt, Joke J.F.A., Simone, Isabella, Caredda, Carla, Milia, Antonio, Floris, Gianluca, Caponnetto, Claudia, Mandich, Paola, Mora, Gabriele, Sideri, Riccardo, Penco, Silvana, Mandrioli, Jessica, Trojsi, Francesca, Ticca, Anna, Ortu, Enzo, Pugliatti, Maura, Benigni, Michele, Brunetti, Maura, Marrali, Giuseppe, Riva, Nilo, Conforti, Francesca L., Messina, Sonia, D’Alfonso, Sandra, Baloh, Robert H., Penny, Michelle, Moreno, Cristiane de Araujo Martins, Chung, Wendy K., Cirulli, Elizabeth T., Harris, Tim, Krueger, Brian J., Lasseigne, Brittany N., McKenna-Yasek, Diane, Myers, Richard M., Pulst, Stefan M., Raphael, Alya R., Rouleau, Guy A., Sapp, Peter C., Waite, Lindsay L., Wang, Quanli, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Hornstein, Eran, Patsopoulos, Nikolaos A., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Baxi, Emily, LeNail, Alex, Benatar, Michael, Hussain, Sumaira, Swenson, Andrea, Jackson, Carlayne, So, Yuen, Wuu, Joanne, Silani, Vincenzo, Fogh, Isabella, Cereda, Cristina, Ceroni, Mauro, Mazzini, Letizia, Maderna, Luca, Sorarù, Gianni, Bernard, Emilien, Laaksovirta, Hannu, McKenna-Yasek, Diane, Asress, Seneshaw, Al-Sarraj, Safa, Scholz, Sonja W., MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Dunckley, Travis L., Troncoso, Juan C., Moisse, Matthieu, Drory, Vivian E., Turner, Martin R., Blair, Ian P., de Carvalho, Mamede, Hide, Winston, Glass, Jonathan, Mill, Jonathan, Newhouse, Stephen, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, van den Berg, Leonard, Williams, Kelly L., Zatz, Mayana, Rothstein, Jeffrey D., Simmons, Zachary, Van Damme, Philip, Sabatelli, Mario, Trojanowski, John Q., Brown, Robert H., Veldink, Jan H., Tienari, Pentti

    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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