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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Mattioli F, Hayot G, Drouot N, Isidor B, Courraud J, Hinckelmann MV, Mau-Them FT, Sellier C, Goldman A, Telegrafi A, Boughton A, Gamble C, Moutton S, Quartier A, Jean N, Van Ness P, Grotto S, Nambot S, Douglas G, Si YC, Chelly J, Shad Z, Kaplan E, Dineen R, Golzio C, Charlet-Berguerand N, Mandel JL, Piton A. Mattioli F, et al. Among authors: sellier c. Am J Hum Genet. 2020 Apr 2;106(4):438-452. doi: 10.1016/j.ajhg.2020.02.013. Epub 2020 Mar 19. Am J Hum Genet. 2020. PMID: 32197073 Free PMC article.
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome.
Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N. Sellier C, et al. Cell Rep. 2013 Mar 28;3(3):869-80. doi: 10.1016/j.celrep.2013.02.004. Epub 2013 Mar 7. Cell Rep. 2013. PMID: 23478018 Free PMC article.
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons.
Almeida S, Gascon E, Tran H, Chou HJ, Gendron TF, Degroot S, Tapper AR, Sellier C, Charlet-Berguerand N, Karydas A, Seeley WW, Boxer AL, Petrucelli L, Miller BL, Gao FB. Almeida S, et al. Among authors: sellier c. Acta Neuropathol. 2013 Sep;126(3):385-99. doi: 10.1007/s00401-013-1149-y. Epub 2013 Jul 9. Acta Neuropathol. 2013. PMID: 23836290 Free PMC article.
FXTAS: size does matter!
Sellier C, Charlet-Berguerand N. Sellier C, et al. Cell Cycle. 2014;13(21):3319. doi: 10.4161/15384101.2014.972920. Cell Cycle. 2014. PMID: 25485575 Free PMC article. No abstract available.
55 results