Sophisticated Gene Regulation for a Complex Physiological System: The Role of Non-coding RNAs in Photoreceptor Cells

by Sabrina Carrella, Sabrina Carrella, Sandro Banfi, Sandro Banfi, Marianthi Karali, Marianthi Karali
Published 2021-01-01

Mutation-Independent Therapies for Retinal Diseases: Focus on Gene-Based Approaches

by Sabrina Carrella, Sabrina Carrella, Alessia Indrieri, Alessia Indrieri, Brunella Franco, Brunella Franco, Sandro Banfi, Sandro Banfi
Published 2020-09-01

The Pervasive Role of the miR-181 Family in Development, Neurodegeneration, and Cancer

by Alessia Indrieri, Sabrina Carrella, Pietro Carotenuto, Sandro Banfi, Brunella Franco
Published 2020-03-01

Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8-mediated rat liver transduction.

by Gabriella Cotugno, Patrizia Annunziata, Maria Vittoria Barone, Marianthi Karali, Sandro Banfi, Alberto Auricchio
Published 2012-01-01

TGF-β Controls miR-181/ERK Regulatory Network during Retinal Axon Specification and Growth.

by Sabrina Carrella, Sara Barbato, Ylenia D'Agostino, Francesco Giuseppe Salierno, Anna Manfredi, Sandro Banfi, Ivan Conte
Published 2015-01-01

Inherited Retinal Diseases Due to <i>RPE65</i> Variants: From Genetic Diagnostic Management to Therapy

by Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Sandro Banfi
Published 2021-07-01

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

by Raffaella Brunetti-Pierri, Marianthi Karali, Paolo Melillo, Valentina Di Iorio, Antonella De Benedictis, Gennarfrancesco Iaccarino, Francesco Testa, Sandro Banfi, Francesca Simonelli
Published 2021-02-01

miR-204 targeting of Ankrd13A controls both mesenchymal neural crest and lens cell migration.

by Raffaella Avellino, Sabrina Carrella, Marinella Pirozzi, Maurizio Risolino, Francesco Giuseppe Salierno, Paola Franco, Patrizia Stoppelli, Pasquale Verde, Sandro Banfi, Ivan Conte
Published 2013-01-01

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy

by Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi, Francesca Simonelli, Italian IRD Working Group
Published 2021-06-01

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

by Gerarda Cappuccio, Raffaella Brunetti‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri
Published 2019-06-01

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications

by Antonietta Coppola, Antonio Romito, Christelle Borel, Corinne Gehrig, Maryline Gagnebin, Emilie Falconnet, Antonella Izzo, Lucia Altucci, Sandro Banfi, Stylianos E. Antonarakis, Gabriella Minchiotti, Gilda Cobellis
Published 2014-03-01

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

by Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli
Published 2017-10-01

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants

by Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Sandro Banfi, Francesca Simonelli
Published 2021-07-01

Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female

by Maria Rosaria Barillari, Marianthi Karali, Valentina Di Iorio, Maria Contaldo, Vincenzo Piccolo, Maria Esposito, Giuseppe Costa, Giuseppe Argenziano, Rosario Serpico, Marco Carotenuto, Gerarda Cappuccio, Sandro Banfi, Paolo Melillo, Francesca Simonelli
Published 2020-09-01

MicroRNA-restricted transgene expression in the retina.

by Marianthi Karali, Anna Manfredi, Agostina Puppo, Elena Marrocco, Annagiusi Gargiulo, Mariacarmela Allocca, Michele Della Corte, Settimio Rossi, Massimo Giunti, Maria Laura Bacci, Francesca Simonelli, Enrico Maria Surace, Sandro Banfi, Alberto Auricchio
Published 2011-01-01

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.

by Danilo Licastro, Margherita Mutarelli, Ivana Peluso, Kornelia Neveling, Nienke Wieskamp, Rossella Rispoli, Diego Vozzi, Emmanouil Athanasakis, Angela D'Eustacchio, Mariateresa Pizzo, Francesca D'Amico, Carmela Ziviello, Francesca Simonelli, Antonella Fabretto, Hans Scheffer, Paolo Gasparini, Sandro Banfi, Vincenzo Nigro
Published 2012-01-01

Pax6 regulates gene expression in the vertebrate lens through miR-204.

by Ohad Shaham, Karen Gueta, Eyal Mor, Pazit Oren-Giladi, Dina Grinberg, Qing Xie, Ales Cvekl, Noam Shomron, Noa Davis, Maya Keydar-Prizant, Shaul Raviv, Metsada Pasmanik-Chor, Rachel E Bell, Carmit Levy, Raffaella Avellino, Sandro Banfi, Ivan Conte, Ruth Ashery-Padan
Published 2013-01-01

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

by Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet
Published 2013-01-01

A high-resolution anatomical atlas of the transcriptome in the mouse embryo.

by Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R Davidson, Pascal Dollé, Stylianos E Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Salvador Martinez, Richard A Baldock, Gregor Eichele, Andrea Ballabio
Published 2011-01-01