DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker Muscular Dystrophy

af Flanigan, Kevin M., Dunn, Diane M., von Niederhausern, Andrew, Howard, Michael T., Mendell, Jerry, Connolly, Anne, Saunders, Carol, Modrcin, Ann, Dasouki, Majed, Comi, Giacomo P., Bo, Roberto Del, Pickart, Angela, Jacobson, Richard, Finkel, Richard, Medne, Livija, Weiss, Robert B.
Udgivet 2009

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

af Magri, Francesca, Bo, Roberto Del, D’Angelo, Maria Grazia, Sciacco, Monica, Gandossini, Sandra, Govoni, Alessandra, Napoli, Laura, Ciscato, Patrizia, Fortunato, Francesco, Brighina, Erika, Bonato, Sara, Bordoni, Andreina, Lucchini, Valeria, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo Pietro
Udgivet 2012

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

af van Doormaal, Perry T.C., Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Chiò, Adriano, Calvo, Andrea, Mora, Gabriele, Restagno, Gabriella, Traynor, Bryan J., Birve, Anna, Lemmens, Robin, van Es, Michael A., Saris, Christiaan G.J., Blauw, Hylke M., van Vught, Paul W.J., Groen, Ewout J.N., Corrado, Lucia, Mazzini, Letizia, Bo, Roberto Del, Corti, Stefania, Waibel, Stefan, Meyer, Thomas, Ludolph, Albert C., Goris, An, van Damme, Philip, Robberecht, Wim, Shatunov, Aleksey, Fogh, Isabella, Andersen, Peter M., D’Alfonso, Sandra, Hardiman, Orla, Cronin, Simon, Rujescu, Dan, Al-Chalabi, Ammar, Landers, John E., Silani, Vincenzo, van den Berg, Leonard H., Veldink, Jan H.
Udgivet i Neurobiol Aging (2014)

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

af Fogh, Isabella, Lin, Kuang, Tiloca, Cinzia, Rooney, James, Gellera, Cinzia, Diekstra, Frank P., Ratti, Antonia, Shatunov, Aleksey, van Es, Michael A., Proitsi, Petroula, Jones, Ashley, Sproviero, William, Chiò, Adriano, McLaughlin, Russell Lewis, Sorarù, Gianni, Corrado, Lucia, Stahl, Daniel, Bo, Roberto Del, Cereda, Cristina, Castellotti, Barbara, Glass, Jonathan D., Newhouse, Steven, Dobson, Richard, Smith, Bradley N., Topp, Simon, van Rheenen, Wouter, Meininger, Vincent, Melki, Judith, Morrison, Karen E., Shaw, Pamela J., Leigh, P. Nigel, Andersen, Peter M., Comi, Giacomo P., Ticozzi, Nicola, Mazzini, Letizia, D’Alfonso, Sandra, Traynor, Bryan J., Van Damme, Philip, Robberecht, Wim, Brown, Robert H., Landers, John E., Hardiman, Orla, Lewis, Cathryn M., van den Berg, Leonard H., Shaw, Christopher E., Veldink, Jan H., Silani, Vincenzo, Al-Chalabi, Ammar, Powell, John
Udgivet i JAMA Neurol (2016)

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

af van Rheenen, Wouter, Shatunov, Aleksey, Dekker, Annelot M, McLaughlin, Russell L, Diekstra, Frank P, Pulit, Sara L, van der Spek, Rick A A, Võsa, Urmo, de Jong, Simone, Robinson, Matthew R, Yang, Jian, Fogh, Isabella, van Doormaal, Perry TC, Tazelaar, Gijs H P, Koppers, Max, Blokhuis, Anna M, Sproviero, William, Jones, Ashley R, Kenna, Kevin P, van Eijk, Kristel R, Harschnitz, Oliver, Schellevis, Raymond D, Brands, William J, Medic, Jelena, Menelaou, Androniki, Vajda, Alice, Ticozzi, Nicola, Lin, Kuang, Rogelj, Boris, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Grošelj, Leja Dolenc, Millecamps, Stéphanie, Salachas, François, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Mora, Jesus S, Rojas-García, Ricardo, Polak, Meraida, Chandran, Siddharthan, Colville, Shuna, Swingler, Robert, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Pittman, Alan, Sidle, Katie, Fratta, Pietro, Malaspina, Andrea, Topp, Simon, Petri, Susanne, Abdulla, Susanne, Drepper, Carsten, Sendtner, Michael, Meyer, Thomas, Ophoff, Roel A, Staats, Kim A, Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M, Trojanowski, John Q, Elman, Lauren, McCluskey, Leo, Basak, A Nazli, Tunca, Ceren, Hamzeiy, Hamid, Parman, Yesim, Meitinger, Thomas, Lichtner, Peter, Radivojkov-Blagojevic, Milena, Andres, Christian R, Maurel, Cindy, Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexis, Payan, Christine A M, Saker-Delye, Safaa, Dürr, Alexandra, Wood, Nicholas W, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-François, Uitterlinden, Andre G, Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charles, Blauw, Hylke M, van der Kooi, Anneke J, de Visser, Marianne, Goris, An, Weber, Markus, Shaw, Christopher E, Smith, Bradley N, Pansarasa, Orietta, Cereda, Cristina, Bo, Roberto Del, Comi, Giacomo P, D’Alfonso, Sandra, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia, Tiloca, Cinzia, Ratti, Antonia, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Arcuti, Simona, Capozzo, Rosa, Zecca, Chiara, Lunetta, Christian, Penco, Silvana, Riva, Nilo, Padovani, Alessandro, Filosto, Massimiliano, Muller, Bernard, Stuit, Robbert Jan, Blair, Ian, Zhang, Katharine, McCann, Emily P, Fifita, Jennifer A, Nicholson, Garth A, Rowe, Dominic B, Pamphlett, Roger, Kiernan, Matthew C, Grosskreutz, Julian, Witte, Otto W, Ringer, Thomas, Prell, Tino, Stubendorff, Beatrice, Kurth, Ingo, Hübner, Christian A, Leigh, P Nigel, Casale, Federico, Chio, Adriano, Beghi, Ettore, Pupillo, Elisabetta, Tortelli, Rosanna, Logroscino, Giancarlo, Powell, John, Ludolph, Albert C, Weishaupt, Jochen H, Robberecht, Wim, Van Damme, Philip, Franke, Lude, Pers, Tune H, Brown, Robert H, Glass, Jonathan D, Landers, John E, Hardiman, Orla, Andersen, Peter M, Corcia, Philippe, Vourc’h, Patrick, Silani, Vincenzo, Wray, Naomi R, Visscher, Peter M, de Bakker, Paul I W, van Es, Michael A, Pasterkamp, R Jeroen, Lewis, Cathryn M, Breen, Gerome, Al-Chalabi, Ammar, van den Berg, Leonard H, Veldink, Jan H
Udgivet i Nat Genet (2016)