Data | Título | Autor(es) | Tipo | Acesso |
2014 | A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories | Akimoto, Chizuru; Volk, Alexander E.; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S.; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Alessandra; Ratti, Antonia; van der Zee, Julie; Alstermark, Helena; Birve, Anna; Calini, Daniela; Nordin, Angelica; Tradowsky, Daniela C.; Just, Walter; Daoud, Hussein; Angerbauer, Sabrina; DeJesus-Hernandez, Mariely; Konno, Takuya; Lloyd-Jani, Anjali; Carvalho, Mamede; Mouzat, Kevin; Landers, John E.; Veldink, Jan H.; Silani, Vincenzo; Gitler, Aaron D.; Shaw, Christopher E.; Rouleau, Guy A; van den Berg, Leonard H.; Van Broeckhoven, Christine; Rademakers, Rosa; Andersen, Peter M.; Kubisch, Christian | article |  |
2016 | Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study | Nordin, Angelica; Akimoto, Chizuru; Wuolikainen, Anna; Alstermark, Helena; Forsberg, Karin; Baumann, Peter; Pinto, Susana; Carvalho, Mamede; Hübers, Annemarie; Nordin, Frida; Ludolph, Albert C.; Weishaupt, Jochen H.; Meyer, Thomas; Grehl, Torsten; Schweikert, Kathi; Weber, Markus; Burkhardt, Christian; Neuwirth, Christoph; Holmøy, Trygve; Morita, Mitsuya; Tysnes, Ole-Bjørn; Benatar, Michael; Wuu, Joanne; Lange, Dale J.; Bisgård, Carsten; Asgari, Nasrin; Tarvainen, Ilkka; Brännström, Thomas; Andersen, Peter M. | article |  |
2023 | Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis | Tazelaar, Gijs H.P.; Hop, Paul J.; Seelen, Meinie; van Vugt, Joke J.F.A.; van Rheenen, Wouter; Kool, Lindy; van Eijk, Kristel R.; Gijzen, Marleen; Dooijes, Dennis; Moisse, Matthieu; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Nordin, Angelica; Pardina, Jesus S. Mora; Ravits, John; Al-Chalabi, Ammar; Chio, Adriano; McLaughlin, Russell L.; Hardiman, Orla; Van Damme, Philip; Carvalho, Mamede; Neuwirth, Christoph; Weber, Markus; Andersen, Peter M; van den Berg, Leonard H.; Veldink, Jan H.; van Es, Michael A. | article |  |