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Page 1
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.
Morales F, Couto JM, Higham CF, Hogg G, Cuenca P, Braida C, Wilson RH, Adam B, del Valle G, Brian R, Sittenfeld M, Ashizawa T, Wilcox A, Wilcox DE, Monckton DG. Morales F, et al. Among authors: adam b. Hum Mol Genet. 2012 Aug 15;21(16):3558-67. doi: 10.1093/hmg/dds185. Epub 2012 May 16. Hum Mol Genet. 2012. PMID: 22595968
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Braida C, et al. Among authors: adam b. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080938
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. Among authors: adam b. 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.
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. Among authors: adam b. PLoS One. 2017 Mar 21;12(3):e0174166. doi: 10.1371/journal.pone.0174166. eCollection 2017. PLoS One. 2017. PMID: 28323905 Free PMC article.
Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial.
Kurkiewicz A, Cooper A, McIlwaine E, Cumming SA, Adam B, Krahe R, Puymirat J, Schoser B, Timchenko L, Ashizawa T, Thornton CA, Rogers S, McClure JD, Monckton DG. Kurkiewicz A, et al. Among authors: adam b. PLoS One. 2020 Apr 14;15(4):e0231000. doi: 10.1371/journal.pone.0231000. eCollection 2020. PLoS One. 2020. PMID: 32287265 Free PMC article.
Correction: 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. Among authors: adam b. PLoS One. 2017 Apr 6;12(4):e0175615. doi: 10.1371/journal.pone.0175615. eCollection 2017. PLoS One. 2017. PMID: 28384345 Free PMC article.
T-cell antigen receptor genes in turbot (Scophthalmus maximus L.).
Taylor IS, Adam B, Veverková M, Tatner MF, Low C, Secombes C, Birkbeck TH. Taylor IS, et al. Among authors: adam b. Fish Shellfish Immunol. 2005 May;18(5):445-8. doi: 10.1016/j.fsi.2004.10.007. Fish Shellfish Immunol. 2005. PMID: 15683920 No abstract available.
489 results