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No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.
Akimoto C, Forsgren L, Linder J, Birve A, Backlund I, Andersson J, Nilsson AC, Alstermark H, Andersen PM. Akimoto C, et al. Among authors: alstermark h. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Jan;14(1):26-9. doi: 10.3109/17482968.2012.725415. Epub 2012 Sep 17. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 22985429
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, Akimoto C, Wuolikainen A, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A, Nordin F, Ludolph AC, Weishaupt JH, Meyer T, Grehl T, Schweikert K, Weber M, Burkhardt C, Neuwirth C, Holmøy T, Morita M, Tysnes OB, Benatar M, Wuu J, Lange DJ, Bisgård C, Asgari N, Tarvainen I, Brännström T, Andersen PM. Nordin A, et al. Among authors: alstermark h. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):256-264. doi: 10.1080/21678421.2016.1262423. Epub 2016 Dec 12. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 27936955
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C. Akimoto C, et al. Among authors: alstermark h. J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4. J Med Genet. 2014. PMID: 24706941 Free PMC article.