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Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).
Santoro M, Fontana L, Masciullo M, Bianchi ML, Rossi S, Leoncini E, Novelli G, Botta A, Silvestri G. Santoro M, et al. Among authors: bianchi ml. Biochim Biophys Acta. 2015 Dec;1852(12):2645-52. doi: 10.1016/j.bbadis.2015.09.007. Epub 2015 Sep 21. Biochim Biophys Acta. 2015. PMID: 26391753 Free article. No abstract available.
An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.
Vanacore N, Rastelli E, Antonini G, Bianchi ML, Botta A, Bucci E, Casali C, Costanzi-Porrini S, Giacanelli M, Gibellini M, Modoni A, Novelli G, Pennisi EM, Petrucci A, Piantadosi C, Silvestri G, Terracciano C, Massa R. Vanacore N, et al. Among authors: bianchi ml. Neuroepidemiology. 2016;46(3):191-7. doi: 10.1159/000444018. Epub 2016 Feb 17. Neuroepidemiology. 2016. PMID: 26882032
172 results