Ferlini A - Search Results

1

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Gherardi S, Bovolenta M, Passarelli C, Falzarano MS, Pigini P, Scotton C, Neri M, Armaroli A, Osman H, Selvatici R, Gualandi F, Recchia A, Mora M, Bernasconi P, Maggi L, Morandi L, Ferlini A, Perini G. Gherardi S, et al. Among authors: ferlini a. Biochim Biophys Acta Gene Regul Mech. 2017 Nov;1860(11):1138-1147. doi: 10.1016/j.bbagrm.2017.08.010. Epub 2017 Sep 1. Biochim Biophys Acta Gene Regul Mech. 2017. PMID: 28867298 Free article.

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: ferlini a. Genomics. 2002 Nov;80(5):523-30. Genomics. 2002. PMID: 12408970

3

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: ferlini a. Gene. 2003 Jun 5;311:25-33. doi: 10.1016/s0378-1119(03)00527-4. Gene. 2003. PMID: 12853135

4

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. Among authors: ferlini a. 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.

5

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: ferlini a. 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

6

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: ferlini a. 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

7

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. Among authors: ferlini a. Gene. 2006 Mar 29;370:26-33. doi: 10.1016/j.gene.2005.11.002. Epub 2006 Jan 24. Gene. 2006. PMID: 16439068

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: ferlini a. 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

Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Merlini L, et al. Among authors: ferlini a. Neurology. 2008 Oct 14;71(16):1245-53. doi: 10.1212/01.wnl.0000327611.01687.5e. Neurology. 2008. PMID: 18852439

10

Transcriptional behavior of DMD gene duplications in DMD/BMD males.

Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A. Gualandi F, et al. Among authors: ferlini a. Hum Mutat. 2009 Feb;30(2):E310-9. doi: 10.1002/humu.20881. Hum Mutat. 2009. PMID: 18853462

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

314 results

Search Page

Filters