Ferlini A - Search Results

1

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: ferlini a. BMC Med Genet. 2012 Mar 28;13:20. doi: 10.1186/1471-2350-13-20. BMC Med Genet. 2012. PMID: 22455600 Free PMC article.

2

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F. Naom IS, et al. Among authors: ferlini a. J Med Genet. 1997 Feb;34(2):99-104. doi: 10.1136/jmg.34.2.99. J Med Genet. 1997. PMID: 9039983 Free PMC article.

3

The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs.

Ferlini A, Muntoni F. Ferlini A, et al. Biochem Biophys Res Commun. 1998 Jan 14;242(2):401-6. doi: 10.1006/bbrc.1997.7976. Biochem Biophys Res Commun. 1998. PMID: 9446807

4

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.

Muntoni F, Di Lenarda A, Porcu M, Sinagra G, Mateddu A, Marrosu G, Ferlini A, Cau M, Milasin J, Melis MA, Marrosu MG, Cianchetti C, Sanna A, Falaschi A, Camerini F, Giacca M, Mestroni L. Muntoni F, et al. Among authors: ferlini a. Heart. 1997 Dec;78(6):608-12. doi: 10.1136/hrt.78.6.608. Heart. 1997. PMID: 9470882 Free PMC article.

5

A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.

Ferlini A, Galié N, Merlini L, Sewry C, Branzi A, Muntoni F. Ferlini A, et al. Am J Hum Genet. 1998 Aug;63(2):436-46. doi: 10.1086/301952. Am J Hum Genet. 1998. PMID: 9683584 Free PMC article.

6

X-linked dilated cardiomyopathy and the dystrophin gene.

Ferlini A, Sewry C, Melis MA, Mateddu A, Muntoni F. Ferlini A, et al. Neuromuscul Disord. 1999 Jul;9(5):339-46. doi: 10.1016/s0960-8966(99)00015-2. Neuromuscul Disord. 1999. PMID: 10407857 Review.

7

Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle.

Torelli S, Ferlini A, Obici L, Sewry C, Muntoni F. Torelli S, et al. Among authors: ferlini a. Neuromuscul Disord. 1999 Dec;9(8):541-51. doi: 10.1016/s0960-8966(99)00048-6. Neuromuscul Disord. 1999. PMID: 10619711

8

Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy.

Bastianutto C, Bestard JA, Lahnakoski K, Broere D, De Visser M, Zaccolo M, Pozzan T, Ferlini A, Muntoni F, Patarnello T, Klamut HJ. Bastianutto C, et al. Among authors: ferlini a. Hum Mol Genet. 2001 Nov 1;10(23):2627-35. doi: 10.1093/hmg/10.23.2627. Hum Mol Genet. 2001. PMID: 11726549

9

Exploring the clinical and epidemiological complexity of GJB2-linked deafness.

Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, Burdo S, Ferlini A, Martini A, Calzolari E. Gualandi F, et al. Among authors: ferlini a. Am J Med Genet. 2002 Sep 15;112(1):38-45. doi: 10.1002/ajmg.10621. Am J Med Genet. 2002. PMID: 12239718

10

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

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