Anna Birve
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Kubisch C, de Carvalho M, Lloyd-Jani A, Konno T, DeJesus-Hernandez M, Angerbauer S, Daoud H, Just W, Tradowsky D, Mouzat K, Landers J, Veldink J, Andersen P, Rademakers R, Van Broeckhoven C, van den Berg L, Rouleau G, Shaw C, Gitler A, Silani V, Nordin A, Calini D, Birve A, Onodera O, Neitzel B, Camu W, Lumbroso S, Leblond C, Van den Broeck M, van Blitterswijk M, Volk A, van Rheenen W, Pinto S, Weber M, Alstermark H, van der Zee J, Ratti A, Chesi A, Keagle P, Talbot K, Proven M, Smith B, Akimoto C. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet 2014; 51:419-24.
Apr 4, 2014A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Apr 4, 2014J Med Genet 2014; 51:419-24
Kubisch Christian, de Carvalho Mamede, Lloyd-Jani Anjali, Konno Takuya, DeJesus-Hernandez Mariely, Angerbauer Sabrina, Daoud Hussein, Just Walter, Tradowsky Daniela C, Mouzat Kevin, Landers John E, Veldink Jan H, Andersen Peter M, Rademakers Rosa, Van Broeckhoven Christine, van den Berg Leonard H, Rouleau Guy A, Shaw Christopher E, Gitler Aaron D, Silani Vincenzo, Nordin Angelica, Calini Daniela, Birve Anna, Onodera Osamu, Neitzel Birgit, Camu William, Lumbroso Serge, Leblond Claire S, Van den Broeck Marleen, van Blitterswijk Marka, Volk Alexander E, van Rheenen Wouter, Pinto Susana, Weber Markus, Alstermark Helena, van der Zee Julie, Ratti Antonia, Chesi Alessandra, Keagle Pamela, Talbot Kevin, Proven Melanie, Smith Bradley, Akimoto Chizuru
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
van den Berg L, Heutink P, van Hilten J, Verbaan D, de Visser M, van der Kooi A, Weber M, Klein C, Waibel S, Fernández-Santiago R, Birve A, Dahlberg C, Lemmens R, Hennekam E, Cuppen E, van de Warrenburg B, Landers J, de Bakker P, Pasterkamp R, Veldink J, Ophoff R, Robberecht W, Ludolph A, Gasser T, Silani V, Brown R, Berg D, Van Damme P, Pezzoli G, Keagle P, LeClerc A, Fumoto K, Diekstra F, Koppers M, Blauw H, Schulte C, Groen E, Andersen P, Ticozzi N, van Vught P, Schelhaas H, Bloem B, Scheffer H, Goldwurm S, Mariani C, Folkerth R, Wu D, Kishikawa H, Yu W, Hu G, Lowe P, Wills A, van Rheenen W, van Blitterswijk M, van Nuenen B, van Es M. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011; 70:964-73.
Dec 1, 2011Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
Dec 1, 2011Ann Neurol 2011; 70:964-73
van den Berg Leonard H, Heutink Peter, van Hilten Jacobus J, Verbaan Dagmar, de Visser Marianne, van der Kooi Anneke J, Weber Markus, Klein Christine, Waibel Stefan, Fernández-Santiago Rubén, Birve Anna, Dahlberg Caroline, Lemmens Robin, Hennekam Eric A M, Cuppen Edwin, van de Warrenburg Bart P, Landers John E, de Bakker Paul I W, Pasterkamp R Jeroen, Veldink Jan H, Ophoff Roel A, Robberecht Wim, Ludolph Albert C, Gasser Thomas, Silani Vincenzo, Brown Robert H, Berg Daniela, Van Damme Philip, Pezzoli Gianni, Keagle Pamela, LeClerc Ashley Lyn, Fumoto Katsumi, Diekstra Frank P, Koppers Max, Blauw Hylke M, Schulte Claudia, Groen Ewout J N, Andersen Peter M, Ticozzi Nicola, van Vught Paul W J, Schelhaas Helenius J, Bloem Bastiaan R, Scheffer Hans, Goldwurm Stefano, Mariani Claudio, Folkerth Rebecca D, Wu David, Kishikawa Hiroko, Yu Wenhao, Hu Guo-fu, Lowe Patrick P, Wills Anne-Marie, van Rheenen Wouter, van Blitterswijk Marka, van Nuenen Bart F L, van Es Michael A
A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis
Birve A, Neuwirth C, Weber M, Marklund S, Nilsson A, Jonsson P, Andersen P. A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis. Hum Mol Genet 2010; 19:4201-6.
Aug 13, 2010A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis
Aug 13, 2010Hum Mol Genet 2010; 19:4201-6
Birve Anna, Neuwirth Christoph, Weber Markus, Marklund Stefan L, Nilsson Ann-Charloth, Jonsson Per Andreas, Andersen Peter M