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CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing.
van Agtmaal EL, André LM, Willemse M, Cumming SA, van Kessel IDG, van den Broek WJAA, Gourdon G, Furling D, Mouly V, Monckton DG, Wansink DG, Wieringa B. van Agtmaal EL, et al. Among authors: cumming sa. Mol Ther. 2017 Jan 4;25(1):24-43. doi: 10.1016/j.ymthe.2016.10.014. Epub 2017 Jan 4. Mol Ther. 2017. PMID: 28129118 Free PMC article.
Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study.
Hamilton MJ, Robb Y, Cumming S, Gregory H, Duncan A, Rahman M, McKeown A, McWilliam C, Dean J, Wilcox A, Farrugia ME, Cooper A, McGhie J, Adam B, Petty R; Scottish Myotonic Dystrophy Consortium; Longman C, Findlay I, Japp A, Monckton DG, Denvir MA. Hamilton MJ, et al. PLoS One. 2017 Mar 21;12(3):e0174166. doi: 10.1371/journal.pone.0174166. eCollection 2017. PLoS One. 2017. PMID: 28323905 Free PMC article.
Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.
Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium. Okkersen K, et al. Lancet Neurol. 2018 Aug;17(8):671-680. doi: 10.1016/S1474-4422(18)30203-5. Epub 2018 Jun 19. Lancet Neurol. 2018. PMID: 29934199 Clinical Trial.
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
Cumming SA, Hamilton MJ, Robb Y, Gregory H, McWilliam C, Cooper A, Adam B, McGhie J, Hamilton G, Herzyk P, Tschannen MR, Worthey E, Petty R, Ballantyne B; Scottish Myotonic Dystrophy Consortium; Warner J, Farrugia ME, Longman C, Monckton DG. Cumming SA, et al. Eur J Hum Genet. 2018 Nov;26(11):1635-1647. doi: 10.1038/s41431-018-0156-9. Epub 2018 Jul 2. Eur J Hum Genet. 2018. PMID: 29967337 Free PMC article.
Disease burden of myotonic dystrophy type 1.
Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Gorman G, Turner C, Lochmüller H. Landfeldt E, et al. J Neurol. 2019 Apr;266(4):998-1006. doi: 10.1007/s00415-019-09228-w. Epub 2019 Feb 20. J Neurol. 2019. PMID: 30788616 Free PMC article.
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort.
Cumming SA, Jimenez-Moreno C, Okkersen K, Wenninger S, Daidj F, Hogarth F, Littleford R, Gorman G, Bassez G, Schoser B, Lochmüller H, van Engelen BGM, Monckton DG; OPTIMISTIC Consortium. Cumming SA, et al. Neurology. 2019 Sep 3;93(10):e995-e1009. doi: 10.1212/WNL.0000000000008056. Epub 2019 Aug 8. Neurology. 2019. PMID: 31395669 Free PMC article. Clinical Trial.
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