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The importance of understanding individual differences in Down syndrome.
Karmiloff-Smith A, Al-Janabi T, D'Souza H, Groet J, Massand E, Mok K, Startin C, Fisher E, Hardy J, Nizetic D, Tybulewicz V, Strydom A. Karmiloff-Smith A, et al. Among authors: tybulewicz v. F1000Res. 2016 Mar 23;5:F1000 Faculty Rev-389. doi: 10.12688/f1000research.7506.1. eCollection 2016. F1000Res. 2016. PMID: 27019699 Free PMC article. Review.
Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration.
Watson-Scales S, Kalmar B, Lana-Elola E, Gibbins D, La Russa F, Wiseman F, Williamson M, Saccon R, Slender A, Olerinyova A, Mahmood R, Nye E, Cater H, Wells S, Yu YE, Bennett DLH, Greensmith L, Fisher EMC, Tybulewicz VLJ. Watson-Scales S, et al. PLoS Genet. 2018 May 10;14(5):e1007383. doi: 10.1371/journal.pgen.1007383. eCollection 2018 May. PLoS Genet. 2018. PMID: 29746474 Free PMC article.
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.
Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Webb R, Chávez-Gutiérrez L, Cleverley K, Noy S, Sheppard O, Collins T, Powell C, Sarell CJ, Rickman M, Choong X, Tosh JL, Siganporia C, Whittaker HT, Stewart F, Szaruga M; London Down syndrome consortium; Murphy MP, Blennow K, de Strooper B, Zetterberg H, Bannerman D, Holtzman DM, Tybulewicz VLJ, Fisher EMC; LonDownS Consortium. Wiseman FK, et al. Brain. 2018 Aug 1;141(8):2457-2474. doi: 10.1093/brain/awy159. Brain. 2018. PMID: 29945247 Free PMC article.
Downregulated Wnt/β-catenin signalling in the Down syndrome hippocampus.
Granno S, Nixon-Abell J, Berwick DC, Tosh J, Heaton G, Almudimeegh S, Nagda Z, Rain JC, Zanda M, Plagnol V, Tybulewicz VLJ, Cleverley K, Wiseman FK, Fisher EMC, Harvey K. Granno S, et al. Among authors: tybulewicz vlj. Sci Rep. 2019 May 13;9(1):7322. doi: 10.1038/s41598-019-43820-4. Sci Rep. 2019. PMID: 31086297 Free PMC article.
212 results