Tiziano FD - Search Results

1

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.

2

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

3

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.

4

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells.

Angelozzi C, Borgo F, Tiziano FD, Martella A, Neri G, Brahe C. Angelozzi C, et al. Among authors: tiziano fd. J Med Genet. 2008 Jan;45(1):29-31. doi: 10.1136/jmg.2007.051177. Epub 2007 Oct 11. J Med Genet. 2008. PMID: 17932121

5

Solving the puzzle of spinal muscular atrophy: what are the missing pieces?

Tiziano FD, Melki J, Simard LR. Tiziano FD, et al. Am J Med Genet A. 2013 Nov;161A(11):2836-45. doi: 10.1002/ajmg.a.36251. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24124019 Review.

6

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

7

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

8

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

9

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

10

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

Zhou J, Tawk M, Tiziano FD, Veillet J, Bayes M, Nolent F, Garcia V, Servidei S, Bertini E, Castro-Giner F, Renda Y, Carpentier S, Andrieu-Abadie N, Gut I, Levade T, Topaloglu H, Melki J. Zhou J, et al. Among authors: tiziano fd. Am J Hum Genet. 2012 Jul 13;91(1):5-14. doi: 10.1016/j.ajhg.2012.05.001. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703880 Free PMC article.

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