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Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders.
Stoll G, Pietiläinen OPH, Linder B, Suvisaari J, Brosi C, Hennah W, Leppä V, Torniainen M, Ripatti S, Ala-Mello S, Plöttner O, Rehnström K, Tuulio-Henriksson A, Varilo T, Tallila J, Kristiansson K, Isohanni M, Kaprio J, Eriksson JG, Raitakari OT, Lehtimäki T, Jarvelin MR, Salomaa V, Hurles M, Stefansson H, Peltonen L, Sullivan PF, Paunio T, Lönnqvist J, Daly MJ, Fischer U, Freimer NB, Palotie A. Stoll G, et al. Among authors: brosi c. Nat Neurosci. 2013 Sep;16(9):1228-1237. doi: 10.1038/nn.3484. Epub 2013 Aug 4. Nat Neurosci. 2013. PMID: 23912948 Free PMC article.
Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes.
Stepniak B, Kästner A, Poggi G, Mitjans M, Begemann M, Hartmann A, Van der Auwera S, Sananbenesi F, Krueger-Burg D, Matuszko G, Brosi C, Homuth G, Völzke H, Benseler F, Bagni C, Fischer U, Dityatev A, Grabe HJ, Rujescu D, Fischer A, Ehrenreich H. Stepniak B, et al. Among authors: brosi c. EMBO Mol Med. 2015 Dec;7(12):1565-79. doi: 10.15252/emmm.201505696. EMBO Mol Med. 2015. PMID: 26612855 Free PMC article.