Cardani R - Search Results

1

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S. Bachmann C, et al. Among authors: cardani r. Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1. Hum Mutat. 2019. PMID: 30932294 Free PMC article.

2

Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2.

Cardani R, Mancinelli E, Rotondo G, Sansone V, Meola G. Cardani R, et al. Eur J Histochem. 2006 Jul-Sep;50(3):177-82. Eur J Histochem. 2006. PMID: 16920640 Free article.

3

A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1.

Cardani R, Mancinelli E, Saino G, Bonavina L, Meola G. Cardani R, et al. Neuromuscul Disord. 2008 Aug;18(8):641-5. doi: 10.1016/j.nmd.2008.06.366. Epub 2008 Jul 23. Neuromuscul Disord. 2008. PMID: 18653337

4

Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2.

Cardani R, Baldassa S, Botta A, Rinaldi F, Novelli G, Mancinelli E, Meola G. Cardani R, et al. Neuromuscul Disord. 2009 May;19(5):335-43. doi: 10.1016/j.nmd.2009.03.002. Epub 2009 Apr 3. Neuromuscul Disord. 2009. PMID: 19345584

5

Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies.

Cardani R, Mancinelli E, Giagnacovo M, Sansone V, Meola G. Cardani R, et al. Eur J Histochem. 2009 Apr-Jun;53(2):107-11. doi: 10.4081/ejh.2009.107. Eur J Histochem. 2009. PMID: 19683984 Free article.

6

Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1.

Perbellini R, Greco S, Sarra-Ferraris G, Cardani R, Capogrossi MC, Meola G, Martelli F. Perbellini R, et al. Among authors: cardani r. Neuromuscul Disord. 2011 Feb;21(2):81-8. doi: 10.1016/j.nmd.2010.11.012. Epub 2010 Dec 18. Neuromuscul Disord. 2011. PMID: 21169019

7

Muscle biopsy.

Meola G, Bugiardini E, Cardani R. Meola G, et al. Among authors: cardani r. J Neurol. 2012 Apr;259(4):601-10. doi: 10.1007/s00415-011-6193-8. Epub 2011 Jul 30. J Neurol. 2012. PMID: 21805256 Review.

8

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Cardani R, Giagnacovo M, Botta A, Rinaldi F, Morgante A, Udd B, Raheem O, Penttilä S, Suominen T, Renna LV, Sansone V, Bugiardini E, Novelli G, Meola G. Cardani R, et al. J Neurol. 2012 Oct;259(10):2090-9. doi: 10.1007/s00415-012-6462-1. Epub 2012 Mar 10. J Neurol. 2012. PMID: 22407275

9

Deregulated microRNAs in myotonic dystrophy type 2.

Greco S, Perfetti A, Fasanaro P, Cardani R, Capogrossi MC, Meola G, Martelli F. Greco S, et al. Among authors: cardani r. PLoS One. 2012;7(6):e39732. doi: 10.1371/journal.pone.0039732. Epub 2012 Jun 29. PLoS One. 2012. PMID: 22768114 Free PMC article.

10

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.

Cardani R, Bugiardini E, Renna LV, Rossi G, Colombo G, Valaperta R, Novelli G, Botta A, Meola G. Cardani R, et al. PLoS One. 2013 Dec 20;8(12):e83777. doi: 10.1371/journal.pone.0083777. eCollection 2013. PLoS One. 2013. PMID: 24376746 Free PMC article.

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