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Inheritance of the m.3243A>G mutation.
de Laat P, Koene S, Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA. de Laat P, et al. JIMD Rep. 2013;8:47-50. doi: 10.1007/8904_2012_159. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430519 Free PMC article.
Serum FGF21 levels in adult m.3243A>G carriers: clinical implications.
Koene S, de Laat P, van Tienoven DH, Vriens D, Brandt AM, Sweep FC, Rodenburg RJ, Donders AR, Janssen MC, Smeitink JA. Koene S, et al. Neurology. 2014 Jul 8;83(2):125-33. doi: 10.1212/WNL.0000000000000578. Epub 2014 Jun 6. Neurology. 2014. PMID: 24907231
International Paediatric Mitochondrial Disease Scale.
Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM. Koene S, et al. Among authors: janssen mch. J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. J Inherit Metab Dis. 2016. PMID: 27277220 Free PMC article.
Three families with 'de novo' m.3243A > G mutation.
de Laat P, Janssen MC, Alston CL, Taylor RW, Rodenburg RJ, Smeitink JA. de Laat P, et al. BBA Clin. 2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016 Dec. BBA Clin. 2016. PMID: 27331024 Free PMC article.
162 results