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Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of rep1 with rab geranylgeranyl transferase 1-gen-2011 Esposito, G; De Falco, F; Tinto, N; Testa, Francesco; Vitagliano, L; Tandurella, Ic; Iannone, L; Rossi, Settimio; Rinaldi, E; Simonelli, Francesca; Zagari, A; Salvatore, F.
Erratum: The human visual cortex responds to gene therapy-mediated recovery of retinal function (The Journal of Clinical Investigation (2011) 121, 6, (2160-2168) DOI: 10.1172/JCI57377) 1-gen-2011 Ashtari, M; Cyckowski, Ll; Monroe, Jf; Marshall, Ka; Chung, Dc; Auricchio, A; Simonelli, Francesca; Leroy, Bp; Maguire, Am; Shindler, Ks; Bennett, J.
Molecular and clinical characterization of albinism in a large cohort of Italian patients 1-gen-2011 Gargiulo, A; Testa, Francesco; Rossi, Settimio; Di Iorio, V; Fecarotta, S; De Berardinis, T; Iovine, A; Magli, A; Signorini, S; Fazzi, E; Galantuomo, Ms; Fossarello, M; Montefusco, S; Ciccodicola, A; Neri, A; Macaluso, C; Simonelli, Francesca; Surace, Em
AAV-mediated photoreceptor transduction of the pig cone-enriched retina 1-gen-2011 Mussolino, C; Della Corte, M; Rossi, Settimio; Viola, F; Di Vicino, U; Marrocco, E; Neglia, S; Doria, M; Testa, Francesco; Giovannoni, R; Crasta, M; Giunti, M; Villani, E; Lavitrano, M; Bacci, Ml; Ratiglia, R; Simonelli, Francesca; Auricchio, A; Surace, Em
MicroRNA-Restricted transgene expression in the retina 1-gen-2011 Karali, M; Manfredi, A; Puppo, A; Marrocco, E; Gargiulo, A; Allocca, M; Della Corte, M; Rossi, Settimio; Giunti, M; Bacci, Ml; Simonelli, Francesca; Surace, Em; Banfi, Sandro; Auricchio, A.
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy 1-gen-2011 Testa, Francesco; Surace, Em; Rossi, Settimio; Marrocco, E; Gargiulo, A; Di Iorio, V; Ziviello, C; Nesti, A; Fecarotta, S; Bacci, Ml; Giunti, M; della Corte, M; Banfi, Sandro; Auricchio, A; Simonelli, Francesca
An Atypical Form of Bietti Crystalline Dystrophy 1-gen-2011 Rossi, Settimio; Testa, Francesco; Li, A; DI IORIO, Valentina; Zhang, J; Gesualdo, C; Corte, Md; Chan, Cc; Fielding Hejtmancik, J; Simonelli, Francesca
Idebenone Treatment In Leber's Hereditary Optic Neuropathy 1-gen-2011 Carelli, V; LA MORGIA, C; Valentino, Ml; Rizzo, G; Carbonelli, M; DE NEGRI, Am; Sadun, F; Carta, A; Guerriero, S; Simonelli, Francesca; Sadun, Aa; Aggarwal, D; Liguori, R; Avoni, P; Baruzzi, A; Zeviani, M; Montagna, P; Barboni, P.
Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation. 1-gen-2012 Rossi, Settimio; Testa, Francesco; Attanasio, M; Orrico, A; de Benedictis, A; Corte, Md; Simonelli, Francesca
Mitochondrial diabetes in children: seek and you will find it 1-gen-2012 Mazzaccara, C; Iafusco, D; Liguori, R; Ferrigno, M; Galderisi, A; Vitale, D; Simonelli, F; Landolfo, P; Prisco, F; Masullo, M; Sacchetti, L
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. 1-gen-2012 Testa, Francesco; Rossi, Settimio; Sodi, A; Passerini, I; Di Iorio, V; Della Corte, M; Banfi, Sandro; Surace, Em; Menchini, U; Auricchio, A; Simonelli, Francesca
The role of optical coherence tomography in an atypical case of oculocutaneous albinism: A case report 1-gen-2012 Rossi, S; Testa, F; Gargiulo, A; Di Iorio, V; Brunetti Pierri, R; D'Alterio, Fm; Corte, Md; Surace, E; Simonelli, F.
Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures. 1-gen-2012 Licastro, D; Mutarelli, M; Peluso, I; Neveling, K; Wieskamp, N; Rispoli, R; Vozzi, D; Athanasakis, E; D'Eustacchio, A; Pizzo, M; D'Amico, F; Ziviello, C; Simonelli, Francesca; Fabretto, A; Scheffer, H; Gasparini, P; Banfi, Sandro; Nigro, Vincenzo
Gene therapy: AAV2 gene therapy readministration in three adults with congenital blindness 1-gen-2012 Bennett, J; Ashtari, M; Wellman, J; Marshall, Ka; Cyckowski, Ll; Chung, Dc; Mccague, S; Pierce, Ea; Chen, Y; Bennicelli, Jl; Zhu, X; Ying, Gs; Sun, J; Wright, Jf; Auricchio, A; Simonelli, F; Shindler, Ks; Mingozzi, F; High, Ka; Maguire, Am.
Post-operative results of corneal collagen cross-linking for progressive keratoconus 1-gen-2012 Rossi, Settimio; Testa, Francesco; Santamaria, C; Orrico, A; Boccia, R; BRUNETTI PIERRI, R; D’Alterio, F. M.; Simonelli, Francesca; DE ROSA, Giuseppe; Brunetti Pierri, Raffaella
Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients 1-gen-2012 Melillo, Paolo; Pecchia, L; Testa, Francesco; Rossi, Settimio; Bennett, J; Simonelli, Francesca
Resolvin D1 reduces the immunoinflammatory response of the rat eye following uveitis. 1-gen-2012 Rossi, Settimio; DI FILIPPO, Clara; Ferraraccio, Franca; Simonelli, Francesca; D'Amico, Michele
Combined rod and cone transduction by adeno-associated virus 2/8 1-gen-2013 Manfredi, A; Marrocco, E; Puppo, A; Cesi, G; Sommella, A; Della Corte, M; Rossi, Settimio; Giunti, M; Craft, Cm; Bacci, Ml; Simonelli, Francesca; Surace, Em; Auricchio, A.
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype 1-gen-2013 Perrault, I; Estrada Cuzcano, A; Lopez, I; Kohl, S; Li, S; Testa, Francesco; Zekveld Vroon, R; Wang, X; Pomares, E; Andorf, J; Aboussair, N; Banfi, Sandro; Delphin, N; den Hollander, Ai; Edelson, C; Florijn, R; Jean Pierre, M; Leowski, C; Megarbane, A; Villanueva, C; Flores, B; Munnich, A; Ren, H; Zobor, D; Bergen, A; Chen, R; Cremers, Fp; Gonzalez Duarte, R; Koenekoop, Rk; Simonelli, Francesca; Stone, E; Wissinger, B; Zhang, Q; Kaplan, J; Rozet, Jm
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2 1-gen-2013 Testa, Francesco; Maguire, Am; Rossi, Settimio; Pierce, Ea; Melillo, Paolo; Marshall, K; Banfi, Sandro; Surace, Em; Sun, J; Acerra, C; Wright, Fj; Wellman, J; High, Ka; Auricchio, A; Bennett, J; Simonelli, Francesca
Mostrati risultati da 101 a 120 di 290
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