Aaron D Gitler
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
The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect
Gispert S, Ludolph A, Riess O, Krüger R, Andersen P, Berg D, Weber M, Becker T, Gitler A, Geisen C, Liepelt I, Bauer P, Waibel S, Kurz A, Auburger G. The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 2011; 45:356-61.
Aug 25, 2011The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect
Aug 25, 2011Neurobiol Dis 2011; 45:356-61
Gispert Suzana, Ludolph Albert C, Riess Olaf, Krüger Rejko, Andersen Peter M, Berg Daniela, Weber Markus, Becker Tim, Gitler Aaron D, Geisen Christof, Liepelt Inga, Bauer Peter, Waibel Stefan, Kurz Alexander, Auburger Georg
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
Lee T, Andersen P, Bonini N, Gispert S, Auburger G, Tysnes O, Meyer T, de Carvalho M, Gredal O, Grehl T, Weber M, Ingre C, Li Y, Gitler A. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 2011; 20:1697-700.
Feb 3, 2011Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
Feb 3, 2011Hum Mol Genet 2011; 20:1697-700
Lee Teresa, Andersen Peter M, Bonini Nancy M, Gispert Suzana, Auburger Georg, Tysnes Ole-Björn, Meyer Thomas, de Carvalho Mamede, Gredal Ole, Grehl Torsten, Weber Markus, Ingre Caroline, Li Yun R, Gitler Aaron D