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Page 1
Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.
Rollinson S, Bennion Callister J, Young K, Ryan SJ, Druyeh R, Rohrer JD, Snowden J, Richardson A, Jones M, Harris J, Davidson Y, Robinson A, Ealing J, Johnson JO, Traynor B, Mead S, Mann D, Pickering-Brown SM. Rollinson S, et al. Among authors: bennion callister j. Neurobiol Aging. 2015 Mar;36(3):1601.e1-5. doi: 10.1016/j.neurobiolaging.2014.12.009. Epub 2014 Dec 12. Neurobiol Aging. 2015. PMID: 25595499 Free PMC article.
Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.
Mann DM, Rollinson S, Robinson A, Bennion Callister J, Thompson JC, Snowden JS, Gendron T, Petrucelli L, Masuda-Suzukake M, Hasegawa M, Davidson Y, Pickering-Brown S. Mann DM, et al. Among authors: bennion callister j. Acta Neuropathol Commun. 2013 Oct 14;1:68. doi: 10.1186/2051-5960-1-68. Acta Neuropathol Commun. 2013. PMID: 24252525 Free PMC article.