Tiziano FD - Search Results

1

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

Tiziano FD, Bertini E, Messina S, Angelozzi C, Pane M, D'Amico A, Alfieri P, Fiori S, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Minetti C, Mongini T, Morandi L, Orcesi S, Pelliccioni M, Pini A, Villanova M, Vita G, Locatelli M, Mercuri E, Brahe C. Tiziano FD, et al. Neuromuscul Disord. 2007 May;17(5):400-3. doi: 10.1016/j.nmd.2007.02.006. Epub 2007 Apr 12. Neuromuscul Disord. 2007. PMID: 17433677

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

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

Sossi V, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C. Sossi V, et al. Eur J Hum Genet. 2001 Feb;9(2):113-20. doi: 10.1038/sj.ejhg.5200599. Eur J Hum Genet. 2001. PMID: 11313744

7

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

8

Pilot trial of phenylbutyrate in spinal muscular atrophy.

Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano FD, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Mercuri E, et al. Among authors: tiziano fd. Neuromuscul Disord. 2004 Feb;14(2):130-5. doi: 10.1016/j.nmd.2003.11.006. Neuromuscul Disord. 2004. PMID: 14733959 Clinical Trial.

9

Apolipoprotein E epsilon4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients.

Marra C, Bizzarro A, Daniele A, De Luca L, Ferraccioli M, Valenza A, Brahe C, Tiziano FD, Gainotti G, Masullo C. Marra C, et al. Among authors: tiziano fd. Dement Geriatr Cogn Disord. 2004;18(2):125-31. doi: 10.1159/000079191. Epub 2004 Jun 18. Dement Geriatr Cogn Disord. 2004. PMID: 15211066

10

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.

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