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Reply to the letter entitled "Predictors of respiratory impairment in patients with myotonic dystrophy type 1".
Rossi S, Della Marca G, Ricci M, Perna A, Nicoletti TF, Brunetti V, Meleo E, Calvello M, Petrucci A, Antonini G, Bucci E, Licchelli L, Sancricca C, Massa R, Rastelli E, Botta A, Di Muzio A, Romano S, Garibaldi M, Silvestri G. Rossi S, et al. Among authors: botta a. J Neurol Sci. 2019 Aug 15;403:166-167. doi: 10.1016/j.jns.2019.05.025. Epub 2019 May 24. J Neurol Sci. 2019. PMID: 31153591 No abstract available.
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles.
Massa R, Panico MB, Caldarola S, Fusco FR, Sabatelli P, Terracciano C, Botta A, Novelli G, Bernardi G, Loreni F. Massa R, et al. Among authors: botta a. Neuropathol Appl Neurobiol. 2010 Jun;36(4):275-84. doi: 10.1111/j.1365-2990.2010.01068.x. Epub 2009 Nov 20. Neuropathol Appl Neurobiol. 2010. PMID: 20102514
Early subclinical cochlear dysfunction in myotonic dystrophy type 1.
Pisani V, Tirabasso A, Mazzone S, Terracciano C, Botta A, Novelli G, Bernardi G, Massa R, Di Girolamo S. Pisani V, et al. Among authors: botta a. Eur J Neurol. 2011 Dec;18(12):1412-6. doi: 10.1111/j.1468-1331.2011.03470.x. Epub 2011 Jul 21. Eur J Neurol. 2011. PMID: 21777352
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: botta a. 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: botta a. Neuroepidemiology. 2016;46(3):191-7. doi: 10.1159/000444018. Epub 2016 Feb 17. Neuroepidemiology. 2016. PMID: 26882032
334 results