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. 2017 May 18;7:2116. doi: 10.1038/s41598-017-02364-1

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Age-related penetrance of the pathogenic C9orf72 repeat expansion classified by subtype. (A) Age-related penetrance based on familial (n = 555) and sporadic (n = 544) status; (B) age-related penetrance curves based on ALS (n = 734) and FTD (n = 303) clinical phenotype; (C) age-related penetrance curves comparing male (n = 612) and female (n = 543) cases of ALS and FTD; (D) age-related penetrance curves among ALS patients based on bulbar (n = 270) or spinal (n = 481) site of symptom onset. The shading represents the 95% confidence interval and censored individuals (i.e. asymptomatic) are indicated by crosses.