Massa R - Search Results

1

Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.

Alfano M, De Antoni L, Centofanti F, Visconti VV, Maestri S, Degli Esposti C, Massa R, D'Apice MR, Novelli G, Delledonne M, Botta A, Rossato M. Alfano M, et al. Among authors: massa r. Elife. 2022 Aug 26;11:e80229. doi: 10.7554/eLife.80229. Elife. 2022. PMID: 36018009 Free PMC article.

2

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.

Santoro M, Fontana L, Maiorca F, Centofanti F, Massa R, Silvestri G, Novelli G, Botta A. Santoro M, et al. Among authors: massa r. Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):917-924. doi: 10.1016/j.bbadis.2017.12.037. Epub 2017 Dec 29. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29291944 Free article.

3

Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.

Botta A, Rossi G, Marcaurelio M, Fontana L, D'Apice MR, Brancati F, Massa R, G Monckton D, Sangiuolo F, Novelli G. Botta A, et al. Among authors: massa r. Eur J Hum Genet. 2017 Feb;25(2):257-261. doi: 10.1038/ejhg.2016.148. Epub 2016 Nov 23. Eur J Hum Genet. 2017. PMID: 27876818 Free PMC article.

4

A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles.

Botta A, Visconti VV, Fontana L, Bisceglia P, Bengala M, Massa R, Bagni I, Cardani R, Sangiuolo F, Meola G, Antonini G, Petrucci A, Pegoraro E, D'Apice MR, Novelli G. Botta A, et al. Among authors: massa r. Front Genet. 2021 Jun 21;12:668094. doi: 10.3389/fgene.2021.668094. eCollection 2021. Front Genet. 2021. PMID: 34234810 Free PMC article.

5

Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).

Botta A, Caldarola S, Vallo L, Bonifazi E, Fruci D, Gullotta F, Massa R, Novelli G, Loreni F. Botta A, et al. Among authors: massa r. Biochim Biophys Acta. 2006 Mar;1762(3):329-34. doi: 10.1016/j.bbadis.2005.11.004. Epub 2005 Dec 6. Biochim Biophys Acta. 2006. PMID: 16376058 Free article.

6

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients.

Salehi LB, Bonifazi E, Stasio ED, Gennarelli M, Botta A, Vallo L, Iraci R, Massa R, Antonini G, Angelini C, Novelli G. Salehi LB, et al. Among authors: massa r. Genet Test. 2007 Spring;11(1):84-90. doi: 10.1089/gte.2006.0511. Genet Test. 2007. PMID: 17394397

7

Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis.

Campione E, Botta A, Di Prete M, Rastelli E, Gibellini M, Petrucci A, Bernardini S, Novelli G, Bianchi L, Orlandi A, Massa R, Terracciano C. Campione E, et al. Among authors: massa r. Neuromuscul Disord. 2017 Feb;27(2):163-169. doi: 10.1016/j.nmd.2016.11.004. Epub 2016 Nov 16. Neuromuscul Disord. 2017. PMID: 28065683

8

Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2.

Spitalieri P, Talarico RV, Murdocca M, Fontana L, Marcaurelio M, Campione E, Massa R, Meola G, Serafino A, Novelli G, Sangiuolo F, Botta A. Spitalieri P, et al. Among authors: massa r. Front Physiol. 2018 Jul 27;9:967. doi: 10.3389/fphys.2018.00967. eCollection 2018. Front Physiol. 2018. PMID: 30100878 Free PMC article.

9

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. 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

10

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: massa r. Neuroepidemiology. 2016;46(3):191-7. doi: 10.1159/000444018. Epub 2016 Feb 17. Neuroepidemiology. 2016. PMID: 26882032

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