Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

por Dekker, Annelot M., Diekstra, Frank P., Pulit, Sara L., Tazelaar, Gijs H. P., van der Spek, Rick A., van Rheenen, Wouter, van Eijk, Kristel R., Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C., Weishaupt, Jochen H., Pardina, Jesus S. Mora, van den Berg, Leonard H., Veldink, Jan H.
Publicado 2019

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

por Tazelaar, Gijs H P, Boeynaems, Steven, De Decker, Mathias, van Vugt, Joke J F A, Kool, Lindy, Goedee, H Stephan, McLaughlin, Russell L, Sproviero, William, Iacoangeli, Alfredo, Moisse, Matthieu, Jacquemyn, Maarten, Daelemans, Dirk, Dekker, Annelot M, van der Spek, Rick A, Westeneng, Henk-Jan, Kenna, Kevin P, Assialioui, Abdelilah, Da Silva, Nica, Povedano, Mónica, Pardina, Jesus S Mora, Hardiman, Orla, Salachas, François, Millecamps, Stéphanie, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Morrison, Karen E, Shaw, Pamela J, Shaw, Christopher E, Pasterkamp, R Jeroen, Landers, John E, Van Den Bosch, Ludo, Robberecht, Wim, Al-Chalabi, Ammar, van den Berg, Leonard H, Van Damme, Philip, Veldink, Jan H, van Es, Michael A
Publicado 2020