檢索結果 - Francesco Testa
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Correlation between Photoreceptor Layer Integrity and Visual Function in Patients with Stargardt Disease: Implications for Gene Therapy 由 Francesco Testa, Settimio Rossi, Andrea Sodi, Ilaria Passerini, Valentina Di Iorio, Michele Della Corte, Sandro Banfi, Enrico Maria Surace, Ugo Menchini, Alberto Auricchio, Francesca Simonelli
出版 2012Artigo -
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Voretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice 由 Francesco Testa, Giacomo Maria Bacci, Benedetto Falsini, Giancarlo Iarossi, Paolo Melillo, Dario Pasquale Mucciolo, Vittoria Murro, Anna Paola Salvetti, Andrea Sodi, Giovanni Staurenghi, Francesca Simonelli
出版 2024Revisão -
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Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic s... 由 Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D’Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovambattista Capasso, Francesca Simonelli, Francesco Salvatore
出版 2017Artigo -
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A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice 由 Vittoria Murro, Sandro Banfi, Francesco Testa, Giancarlo Iarossi, Benedetto Falsini, Andrea Sodi, Sabrina Signorini, Achille Iolascon, Roberta Russo, Dario Pasquale Mucciolo, Roberto Caputo, Giacomo Maria Bacci, Sara Bargiacchi, Simona Turco, Stefania Fortini, Francesca Simonelli
出版 2023Revisão -
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Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2 由 Francesco Testa, Albert M. Maguire, Settimio Rossi, Eric A. Pierce, Paolo Melillo, Kathleen Marshall, Sandro Banfi, Enrico Maria Surace, Junwei Sun, Carmela Acerra, J. Fraser Wright, Jennifer Wellman, Katherine A. High, Alberto Auricchio, Jean Bennett, Francesca Simonelli
出版 2013Artigo -
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Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients 由 Annagiusi Gargiulo, Francesco Testa, Settimio Rossi, Valentina Di Iorio, Simona Fecarotta, Teresa de Berardinis, Antonello Iovine, Adriano Magli, Sabrina Signorini, Elisa Fazzi, Maria Silvana Galantuomo, Maurizio Fossarello, Sandro Montefusco, Alfredo Ciccodicola, Alberto Neri, Claudio Macaluso, Francesca Simonelli, Enrico Maria Surace
出版 2010Artigo -
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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy 由 Marianthi Karali, Francesco Testa, Valentina Di Iorio, Annalaura Torella, Roberta Zeuli, Margherita Scarpato, Francesca Romano, Maria Elena Onore, Mariateresa Pizzo, Paolo Melillo, Raffaella Brunetti‐Pierri, Ilaria Passerini, Elisabetta Pelo, Frans P.M. Cremers, Gabriella Esposito, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi
出版 2022Artigo -
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AAV-mediated photoreceptor transduction of the pig cone-enriched retina 由 Claudio Mussolino, Michele Della Corte, Settimio Rossi, Francesco Viola, Umberto Di Vicino, Elena Marrocco, Simona Neglia, Margherita Doria, Francesco Testa, Roberto Giovannoni, M Crasta, Massimo Giunti, Edoardo Villani, Marialuisa Lavitrano, Maria Laura Bacci, Roberto Ratiglia, Francesca Simonelli, Alberto Auricchio, Enrico Maria Surace
出版 2011Artigo -
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Efficacy, pharmacokinetics, and safety in the mouse and primate retina of dual AAV vectors for Usher syndrome type 1B 由 Rita Ferla, Fabio Dell’Aquila, Monica Doria, Maria Ferraiuolo, Alessia Noto, Fabiana Grazioli, Virginia Ammendola, Francesco Testa, Paolo Melillo, Carolina Iodice, Giulia Risca, Novella Tedesco, Pierre Romain le Brun, Enrico Maria Surace, Francesca Simonelli, Stefania Galimberti, Maria Grazia Valsecchi, Jean‐Brice Marteau, P. Véron, Stefano Colloca, Alberto Auricchio
出版 2023Artigo -
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Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration 由 Francesca Simonelli, Albert M. Maguire, Francesco Testa, Eric A. Pierce, Federico Mingozzi, Jeannette Bennicelli, Settimio Rossi, Kathleen Marshall, Sandro Banfi, Enrico Maria Surace, Junwei Sun, T. Michael Redmond, Xiaosong Zhu, Kenneth S. Shindler, Gui‐Shuang Ying, Carmela Ziviello, Carmela Acerra, J. Fraser Wright, Jennifer Wellman McDonnell, Katherine A. High, Jean Bennett, Alberto Auricchio
出版 2009Artigo -
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Analysis of the ABCA4 genomic locus in Stargardt disease 由 Jana Zernant, Ya‐Jing Xie, Carmen Ayuso, Rosa Riveiro-Álvarez, Miguel-Ángel López-Martínez, Francesca Simonelli, Francesco Testa, Michael B. Gorin, Samuel P. Strom, Mette Bertelsen, Thomas Rosenberg, Philip M. Boone, Bo Yuan, Radha Ayyagari, Péter L. Nagy, Stephen H. Tsang, Peter Gouras, Frederick T. Collison, James R. Lupski, Gerald A. Fishman, Rando Allikmets
出版 2014Artigo -
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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy 由 Leonardo Caporali, Luisa Iommarini, Chiara La Morgia, Anna Olivieri, Alessandro Achilli, Alessandra Maresca, Maria Lucia Valentino, Mariantonietta Capristo, Francesca Tagliavini, Valentina Del Dotto, Claudia Zanna, Rocco Liguori, Piero Barboni, Michele Carbonelli, Veronica Cocetta, Monica Montopoli, Andrea Martinuzzi, Giovanna Cenacchi, Giuseppe De Michele, Francesco Testa, Anna Nesti, Francesca Simonelli, Anna Maria Porcelli, Antonio Torroni, Valério Carelli
出版 2018Artigo -
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Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa 由 Dikla Bandah‐Rozenfeld, Rob W.J. Collin, Eyal Banin, L. Ingeborgh van den Born, Karlien L. M. Coene, Anna M. Siemiatkowska, Lina Zelinger, Muhammad Imran Khan, Dirk J. Lefeber, Inbar Erdinest, Francesco Testa, Francesca Simonelli, Krysta Voesenek, Ellen A.W. Blokland, Tim M. Strom, Caroline C. W. Klaver, Raheel Qamar, Sandro Banfi, Frans P.M. Cremers, Dror Sharon, Anneke I. den Hollander
出版 2010Artigo
相關主題
Biology
Genetics
Medicine
Gene
Ophthalmology
Retinal
Retinitis pigmentosa
Phenotype
Internal medicine
Retinal pigment epithelium
Visual acuity
Genetic enhancement
Mutation
Neuroscience
ABCA4
Bioinformatics
RPE65
Retina
Audiology
Electroretinography
Genetic testing
Genotype
Pediatrics
Recombinant DNA
Retinal degeneration
Stargardt disease
Surgery
Vector (molecular biology)
Clinical trial
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