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; De Carvalho, Mamede; Huebers, Annemarie; Nordin, Frida; Ludolph, Albert C.; Weishaupt, Jochen H.; Meyer, Thomas; Grehl, Torsten; Schweikert, Kathi; Weber, Markus; Burkhardt, Christian; Neuwirth, Christoph; Holmoy, Trygve; Morita, Mitsuya; Tysnes, Ole-Bjorn; Benatar, Michael; Wuu, Joanne; Lange, Dale J.; Bisgard, Carsten; Asgari, Nasrin; Tarvainen, Ilkka; Brannstrom, Thomas; Andersen, Peter M.

Erstveröffentlichung

2017

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Wissenschaftlicher Artikel

Authors

Nordin, Angelica

Akimoto, Chizuru

Wuolikainen, Anna

Alstermark, Helena

Forsberg, Karin

et al.

Institutions

UKU. Klinik für Neurologie

Published in

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ; 18 (2017), 3-4. - S. 256-264. - ISSN 2167-8421. - eISSN 2167-9223

Link to publication

https://dx.doi.org/10.1080/21678421.2016.1262423

Funding information

Swedish Science Council
Brain Research Foundation
B. Hallsten's Brain Research Foundation
Neuroforbundet
Ulla-Carin Lindquist's Foundation for ALS Research
etc.

Keywords

C9orf72; ALS; FTD; variants; RP-PCR interpretation; amyotrophic-lateral-sclerosis; rna foci; antisense transcripts; ggggcc expansion; proteins; translation; c9ftd/als; cohort

Dewey Decimal Group

DDC 610 / Medicine & health

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