Chizuru Akimoto
Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study
Nordin A, Burkhardt C, Neuwirth C, Holmøy T, Morita M, Tysnes O, Benatar M, Wuu J, Lange D, Bisgård C, Asgari N, Tarvainen I, Brännström T, Weber M, Schweikert K, Grehl T, Akimoto C, Wuolikainen A, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A, Nordin F, Ludolph A, Weishaupt J, Meyer T, Andersen P. Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study. Amyotroph Lateral Scler Frontotemporal Degener 2016; 18:256-264.
12.12.2016Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study
12.12.2016Amyotroph Lateral Scler Frontotemporal Degener 2016; 18:256-264
Nordin Angelica, 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, Weber Markus, Schweikert Kathi, Grehl Torsten, Akimoto Chizuru, Wuolikainen Anna, Alstermark Helena, Forsberg Karin, Baumann Peter, Pinto Susana, de Carvalho Mamede, Hübers Annemarie, Nordin Frida, Ludolph Albert C, Weishaupt Jochen H, Meyer Thomas, Andersen Peter M
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.
04.04.2014A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
04.04.2014J 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