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Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Ababneh NA, Scaber J, Flynn R, Douglas A, Barbagallo P, Candalija A, Turner MR, Sims D, Dafinca R, Cowley SA, Talbot K. Ababneh NA, et al. Among authors: sims d. Hum Mol Genet. 2020 Aug 3;29(13):2200-2217. doi: 10.1093/hmg/ddaa106. Hum Mol Genet. 2020. PMID: 32504093 Free PMC article.
Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1.
Jonikas M, Madill M, Mathy A, Zekoll T, Zois CE, Wigfield S, Kurzawa-Akanbi M, Browne C, Sims D, Chinnery PF, Cowley SA, Tofaris GK. Jonikas M, et al. Among authors: sims d. Ann Neurol. 2018 May;83(5):915-925. doi: 10.1002/ana.25221. Epub 2018 Apr 25. Ann Neurol. 2018. PMID: 29604226 Free PMC article.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: sims d. Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005. Am J Hum Genet. 2017. PMID: 28886343 Free PMC article.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Jayawant S, Lickiss J, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: sims d. Am J Hum Genet. 2017 Oct 5;101(4):638. doi: 10.1016/j.ajhg.2017.09.006. Am J Hum Genet. 2017. PMID: 28985497 Free PMC article. No abstract available.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: sims d. Am J Hum Genet. 2017 Nov 2;101(5):866. doi: 10.1016/j.ajhg.2017.10.008. Am J Hum Genet. 2017. PMID: 29100096 Free PMC article. No abstract available.
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH. Parolin Schnekenberg R, et al. Among authors: sims d, d adamo mc. Brain. 2015 Jul;138(Pt 7):1817-32. doi: 10.1093/brain/awv117. Epub 2015 May 16. Brain. 2015. PMID: 25981959 Free PMC article.
523 results