Muntoni 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. Among authors: muntoni f. 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: muntoni f. Genomics. 2002 Nov;80(5):523-30. Genomics. 2002. PMID: 12408970

3

A novel muscle-specific enhancer identified within the deletion overlap region of two XLDC patients lacking muscle exon 1 of the human dystrophin gene.

Bastianutto C, De Visser M, Muntoni F, Klamut HJ, Patarnello T. Bastianutto C, et al. Among authors: muntoni f. Genomics. 2002 Dec;80(6):614-20. doi: 10.1006/geno.2002.7015. Genomics. 2002. PMID: 12504853

4

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts.

Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F. Skordis LA, et al. Among authors: muntoni f. Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):4114-9. doi: 10.1073/pnas.0633863100. Epub 2003 Mar 17. Proc Natl Acad Sci U S A. 2003. PMID: 12642665 Free PMC article.

5

Dystrophin and mutations: one gene, several proteins, multiple phenotypes.

Muntoni F, Torelli S, Ferlini A. Muntoni F, et al. Lancet Neurol. 2003 Dec;2(12):731-40. doi: 10.1016/s1474-4422(03)00585-4. Lancet Neurol. 2003. PMID: 14636778 Review.

6

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: muntoni 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

7

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: muntoni 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

8

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.

Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, Spitali P, Rimessi P, Gualandi F, Sewry C, Ferlini A, Muntoni F. Neri M, et al. Among authors: muntoni f. Neuromuscul Disord. 2007 Dec;17(11-12):913-8. doi: 10.1016/j.nmd.2007.07.005. Epub 2007 Sep 7. Neuromuscul Disord. 2007. PMID: 17826093

9

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: muntoni f. BMC Genomics. 2008 Nov 28;9:572. doi: 10.1186/1471-2164-9-572. BMC Genomics. 2008. PMID: 19040728 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: muntoni 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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