Gualandi F - Search Results

1

Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality.

Gualandi F, Rimessi P, Cardazzo B, Toffolatti L, Dunckley MG, Calzolari E, Patarnello T, Muntoni F, Ferlini A. Gualandi F, et al. Gene. 2003 Jun 5;311:25-33. doi: 10.1016/s0378-1119(03)00527-4. Gene. 2003. PMID: 12853135

2

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.

Toffolatti L, Cardazzo B, Nobile C, Danieli GA, Gualandi F, Muntoni F, Abbs S, Zanetti P, Angelini C, Ferlini A, Fanin M, Patarnello T. Toffolatti L, et al. Among authors: gualandi f. Genomics. 2002 Nov;80(5):523-30. Genomics. 2002. PMID: 12408970

3

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Rimessi P, et al. Among authors: gualandi f. Am J Med Genet A. 2005 Feb 1;132A(4):391-4. doi: 10.1002/ajmg.a.30513. Am J Med Genet A. 2005. PMID: 15641026

4

Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for x-linked dilated cardiomyopathy.

Rimessi P, Fabris M, Bovolenta M, Bassi E, Falzarano S, Gualandi F, Rapezzi C, Coccolo F, Perrone D, Medici A, Ferlini A. Rimessi P, et al. Among authors: gualandi f. Hum Gene Ther. 2010 Sep;21(9):1137-46. doi: 10.1089/hum.2010.010. Hum Gene Ther. 2010. PMID: 20486769

5

Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.

Gualandi F, Trabanelli C, Rimessi P, Calzolari E, Toffolatti L, Patarnello T, Kunz G, Muntoni F, Ferlini A. Gualandi F, et al. J Med Genet. 2003 Aug;40(8):e100. doi: 10.1136/jmg.40.8.e100. J Med Genet. 2003. PMID: 12920092 Free PMC article. No abstract available.

6

Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.

Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A. Gualandi F, et al. Gene. 2006 Mar 29;370:26-33. doi: 10.1016/j.gene.2005.11.002. Epub 2006 Jan 24. Gene. 2006. PMID: 16439068

7

In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy.

Cohen N, Rimessi P, Gualandi F, Ferlini A, Muntoni F. Cohen N, et al. Among authors: gualandi f. Biochem Biophys Res Commun. 2004 May 14;317(4):1215-20. doi: 10.1016/j.bbrc.2004.03.175. Biochem Biophys Res Commun. 2004. PMID: 15094399

8

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.

Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A. Bovolenta M, et al. Among authors: gualandi f. BMC Genomics. 2008 Nov 28;9:572. doi: 10.1186/1471-2164-9-572. BMC Genomics. 2008. PMID: 19040728 Free PMC article.

9

Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.

Rimessi P, Sabatelli P, Fabris M, Braghetta P, Bassi E, Spitali P, Vattemi G, Tomelleri G, Mari L, Perrone D, Medici A, Neri M, Bovolenta M, Martoni E, Maraldi NM, Gualandi F, Merlini L, Ballestri M, Tondelli L, Sparnacci K, Bonaldo P, Caputo A, Laus M, Ferlini A. Rimessi P, et al. Among authors: gualandi f. Mol Ther. 2009 May;17(5):820-7. doi: 10.1038/mt.2009.8. Epub 2009 Feb 24. Mol Ther. 2009. PMID: 19240694 Free PMC article.

10

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F, Ferlini A. Neri M, et al. Among authors: gualandi f. BMC Med Genet. 2012 Mar 28;13:20. doi: 10.1186/1471-2350-13-20. BMC Med Genet. 2012. PMID: 22455600 Free PMC article.

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