Simonelli F - Search Results

1

MicroRNA-restricted transgene expression in the retina.

Karali M, Manfredi A, Puppo A, Marrocco E, Gargiulo A, Allocca M, Corte MD, Rossi S, Giunti M, Bacci ML, Simonelli F, Surace EM, Banfi S, Auricchio A. Karali M, et al. Among authors: simonelli f. PLoS One. 2011;6(7):e22166. doi: 10.1371/journal.pone.0022166. Epub 2011 Jul 26. PLoS One. 2011. PMID: 21818300 Free PMC article.

2

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

Simonelli F, Cennamo G, Ziviello C, Testa F, de Crecchio G, Nesti A, Manitto MP, Ciccodicola A, Banfi S, Brancato R, Rinaldi E. Simonelli F, et al. Br J Ophthalmol. 2003 Sep;87(9):1130-4. doi: 10.1136/bjo.87.9.1130. Br J Ophthalmol. 2003. PMID: 12928282 Free PMC article.

3

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Rinaldi E, Allikmets R. Simonelli F, et al. Ophthalmic Res. 2004 Mar-Apr;36(2):82-8. doi: 10.1159/000076886. Ophthalmic Res. 2004. PMID: 15017103

4

Genotype-phenotype correlation in Italian families with Stargardt disease.

Simonelli F, Testa F, Zernant J, Nesti A, Rossi S, Allikmets R, Rinaldi E. Simonelli F, et al. Ophthalmic Res. 2005 May-Jun;37(3):159-67. doi: 10.1159/000086073. Epub 2005 May 7. Ophthalmic Res. 2005. PMID: 15942264

5

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, Falsini B, Ghiglione D, Macaluso C, Manitto MP, Garrè C, Ciccodicola A, Rinaldi E, Banfi S. Ziviello C, et al. Among authors: simonelli f. J Med Genet. 2005 Jul;42(7):e47. doi: 10.1136/jmg.2005.031682. J Med Genet. 2005. PMID: 15994872 Free PMC article.

6

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.

Testa F, Ziviello C, Rinaldi M, Rossi S, Di Iorio V, Interlandi E, Ciccodicola A, Banfi S, Simonelli F. Testa F, et al. Among authors: simonelli f. Eur J Ophthalmol. 2006 Sep-Oct;16(5):779-81. doi: 10.1177/112067210601600524. Eur J Ophthalmol. 2006. PMID: 17061239

7

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S. Simonelli F, et al. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90. doi: 10.1167/iovs.07-0068. Invest Ophthalmol Vis Sci. 2007. PMID: 17724218

8

Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.

Simonelli F, Testa F, Marini V, Interlandi E, Rossi S, Pognuz DR, Virgili G, Garrè C, Bandello F. Simonelli F, et al. Ophthalmic Res. 2007;39(5):255-9. doi: 10.1159/000108118. Epub 2007 Sep 12. Ophthalmic Res. 2007. PMID: 17851265

9

Safety and efficacy of gene transfer for Leber's congenital amaurosis.

Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. Maguire AM, et al. Among authors: simonelli f. N Engl J Med. 2008 May 22;358(21):2240-8. doi: 10.1056/NEJMoa0802315. Epub 2008 Apr 27. N Engl J Med. 2008. PMID: 18441370 Free PMC article. Clinical Trial.

10

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J. Maguire AM, et al. Among authors: simonelli f. Lancet. 2009 Nov 7;374(9701):1597-605. doi: 10.1016/S0140-6736(09)61836-5. Epub 2009 Oct 23. Lancet. 2009. PMID: 19854499 Free PMC article. Clinical Trial.

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