1. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Issue 6 (4th April 2014) Authors: 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, Ales... Journal: Journal of medical genetics Issue: Volume 51:Issue 6(2014) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Issue 1 (January 2013) Authors: Akimoto, Chizuru; Forsgren, Lars; Linder, Jan; Birve, Anna; Backlund, Irene; Andersson, Jörgen; Nilsson, Ann-Charloth; Alstermark, Helena; Andersen, Peter M. Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 14:Issue 1(2013) Page Start: 26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study. Issue 3 (3rd April 2017) Authors: Nordin, Angelica; 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; Grehl, Torsten; Schweikert, Kathi; Weber, Markus; Burkhardt, C... Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 18:Issue 3/4(2017) Page Start: 256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗