Ferlini A - Search Results

1

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Among authors: ferlini a. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.

2

Origin of new mutations in Duchenne muscular dystrophy.

Roncuzzi L, Ferlini A, Pirozzi A, Romeo G. Roncuzzi L, et al. Among authors: ferlini a. Hum Genet. 1986 Dec;74(4):456-60. doi: 10.1007/BF00280507. Hum Genet. 1986. PMID: 2878873

3

The protein defect in congenital muscular dystrophy.

Sewry CA, Naom I, D'Alessandro M, Ferlini A, Philpot J, Mercuri E, Dubowitz V, Muntoni F. Sewry CA, et al. Among authors: ferlini a. Biochem Soc Trans. 1996 May;24(2):281S. doi: 10.1042/bst024281s. Biochem Soc Trans. 1996. PMID: 8736939 No abstract available.

4

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.

5

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.

Naom I, D'Alessandro M, Sewry C, Ferlini A, Topaloglu H, Helbling-Leclerc A, Guicheney P, Schwartz K, Akcoren Z, Dubowitz V, Muntoni F. Naom I, et al. Among authors: ferlini a. Hum Genet. 1997 Apr;99(4):535-40. doi: 10.1007/s004390050402. Hum Genet. 1997. PMID: 9099847

6

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.

Naom I, Sewry C, D'Alessandro M, Topaloglu H, Ferlini A, Wilson L, Dubowitz V, Muntoni F. Naom I, et al. Among authors: ferlini a. Neuromuscul Disord. 1997 May;7(3):176-9. doi: 10.1016/s0960-8966(97)00448-3. Neuromuscul Disord. 1997. PMID: 9185181

7

Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.

Sewry CA, D'Alessandro M, Wilson LA, Sorokin LM, Naom I, Bruno S, Ferlini A, Dubowitz V, Muntoni F. Sewry CA, et al. Among authors: ferlini a. Neuropediatrics. 1997 Aug;28(4):217-22. doi: 10.1055/s-2007-973703. Neuropediatrics. 1997. PMID: 9309712

8

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

9

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.

10

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.

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