Tiziano FD - Search Results

1

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.

Frugier T, Tiziano FD, Cifuentes-Diaz C, Miniou P, Roblot N, Dierich A, Le Meur M, Melki J. Frugier T, et al. Among authors: tiziano fd. Hum Mol Genet. 2000 Mar 22;9(5):849-58. doi: 10.1093/hmg/9.5.849. Hum Mol Genet. 2000. PMID: 10749994

2

Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family.

Zappata S, Tiziano F, Neri G, Brahe C. Zappata S, et al. Hum Genet. 1996 Mar;97(3):315-8. doi: 10.1007/BF02185762. Hum Genet. 1996. PMID: 8786072

3

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I.

Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G. Brahe C, et al. Hum Mol Genet. 1996 Dec;5(12):1971-6. doi: 10.1093/hmg/5.12.1971. Hum Mol Genet. 1996. PMID: 8968751

4

SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.

Patrizi AL, Tiziano F, Zappata S, Donati MA, Neri G, Brahe C. Patrizi AL, et al. Eur J Hum Genet. 1999 Apr;7(3):301-9. doi: 10.1038/sj.ejhg.5200286. Eur J Hum Genet. 1999. PMID: 10234506

5

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.

Vitali T, Sossi V, Tiziano F, Zappata S, Giuli A, Paravatou-Petsotas M, Neri G, Brahe C. Vitali T, et al. Hum Mol Genet. 1999 Dec;8(13):2525-32. doi: 10.1093/hmg/8.13.2525. Hum Mol Genet. 1999. PMID: 10556301

6

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M. Puccio H, et al. Nat Genet. 2001 Feb;27(2):181-6. doi: 10.1038/84818. Nat Genet. 2001. PMID: 11175786

7

Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy.

Cifuentes-Diaz C, Frugier T, Tiziano FD, Lacène E, Roblot N, Joshi V, Moreau MH, Melki J. Cifuentes-Diaz C, et al. Among authors: tiziano fd. J Cell Biol. 2001 Mar 5;152(5):1107-14. doi: 10.1083/jcb.152.5.1107. J Cell Biol. 2001. PMID: 11238465 Free PMC article.

8

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy.

Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, Brahe C. Andreassi C, et al. Among authors: tiziano fd. Eur J Hum Genet. 2004 Jan;12(1):59-65. doi: 10.1038/sj.ejhg.5201102. Eur J Hum Genet. 2004. PMID: 14560316

9

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.

Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, Moscato U, Bertini E, Mercuri E, Neri G. Brahe C, et al. Among authors: tiziano fd. Eur J Hum Genet. 2005 Feb;13(2):256-9. doi: 10.1038/sj.ejhg.5201320. Eur J Hum Genet. 2005. PMID: 15523494 Clinical Trial.

10

Refined characterization of the expression and stability of the SMN gene products.

Vitte J, Fassier C, Tiziano FD, Dalard C, Soave S, Roblot N, Brahe C, Saugier-Veber P, Bonnefont JP, Melki J. Vitte J, et al. Among authors: tiziano fd. Am J Pathol. 2007 Oct;171(4):1269-80. doi: 10.2353/ajpath.2007.070399. Epub 2007 Aug 23. Am J Pathol. 2007. PMID: 17717146 Free PMC article.

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