The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

Pathological expansion of a G(4)C(2) repeat, located in the 5' regulatory region of C9orf72, is the most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). C9orf72 patients have highly variable onset ages suggesting the presence of modifyin...

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Publicado no:Mol Psychiatry
Main Authors: Gijselinck, I, Van Mossevelde, S, van der Zee, J, Sieben, A, Engelborghs, S, De Bleecker, J, Ivanoiu, A, Deryck, O, Edbauer, D, Zhang, M, Heeman, B, Bäumer, V, Van den Broeck, M, Mattheijssens, M, Peeters, K, Rogaeva, E, De Jonghe, P, Cras, P, Martin, J-J, de Deyn, P P, Cruts, M, Van Broeckhoven, C
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4960451/
https://ncbi.nlm.nih.gov/pubmed/26481318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mp.2015.159
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