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

por Carrella, Sabrina, Banfi, Sandro, Karali, Marianthi
Publicado 2021

Impact of Age at Administration, Lysosomal Storage, and Transgene Regulatory Elements on AAV2/8-Mediated Rat Liver Transduction

por Cotugno, Gabriella, Annunziata, Patrizia, Barone, Maria Vittoria, Karali, Marianthi, Banfi, Sandro, Auricchio, Alberto
Publicado 2012

miRNeye: a microRNA expression atlas of the mouse eye

por Karali, Marianthi, Peluso, Ivana, Gennarino, Vincenzo A, Bilio, Marchesa, Verde, Roberta, Lago, Giampiero, Dollé, Pascal, Banfi, Sandro
Publicado 2010

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

por Musacchia, Francesco, Karali, Marianthi, Torella, Annalaura, Laurie, Steve, Policastro, Valeria, Pizzo, Mariateresa, Beltran, Sergi, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro
Publicado 2021

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

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

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

por Aoun, Manar, Passerini, Ilaria, Chiurazzi, Pietro, Karali, Marianthi, De Rienzo, Irene, Sartor, Giovanna, Murro, Vittoria, Filimonova, Natalia, Seri, Marco, Banfi, Sandro
Publicado 2021

AAV-miR-204 Protects from Retinal Degeneration by Attenuation of Microglia Activation and Photoreceptor Cell Death

por Karali, Marianthi, Guadagnino, Irene, Marrocco, Elena, De Cegli, Rossella, Carissimo, Annamaria, Pizzo, Mariateresa, Casarosa, Simona, Conte, Ivan, Surace, Enrico Maria, Banfi, Sandro
Publicado 2019

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy

por Testa, Francesco, Melillo, Paolo, Di Iorio, Valentina, Iovino, Claudio, Farinaro, Francesco, Karali, Marianthi, Banfi, Sandro, Rossi, Settimio, Della Corte, Michele, Simonelli, Francesca
Publicado 2022

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

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

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

por Testa, Francesco, Sodi, Andrea, Signorini, Sabrina, Di Iorio, Valentina, Murro, Vittoria, Brunetti-Pierri, Raffaella, Valente, Enza Maria, Karali, Marianthi, Melillo, Paolo, Banfi, Sandro, Simonelli, Francesca
Publicado 2021

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

por Di Iorio, Valentina, Karali, Marianthi, Melillo, Paolo, Testa, Francesco, Brunetti-Pierri, Raffaella, Musacchia, Francesco, Condroyer, Christel, Neidhardt, John, Audo, Isabelle, Zeitz, Christina, Banfi, Sandro, Simonelli, Francesca
Publicado 2020

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

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

Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients

por Testa, Francesco, Melillo, Paolo, Della Corte, Michele, Di Iorio, Valentina, Brunetti-Pierri, Raffaella, Citro, Amelia, Ferrara, Maurizio, Karali, Marianthi, Annibale, Rosa, Banfi, Sandro, Rossi, Settimio, Simonelli, Francesca
Publicado 2021

Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa

por Karali, Marianthi, Testa, Francesco, Brunetti-Pierri, Raffaella, Di Iorio, Valentina, Pizzo, Mariateresa, Melillo, Paolo, Barillari, Maria Rosaria, Torella, Annalaura, Musacchia, Francesco, D’Angelo, Luigi, Banfi, Sandro, Simonelli, Francesca
Publicado 2019

High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs

por Karali, Marianthi, Persico, Maria, Mutarelli, Margherita, Carissimo, Annamaria, Pizzo, Mariateresa, Singh Marwah, Veer, Ambrosio, Concetta, Pinelli, Michele, Carrella, Diego, Ferrari, Stefano, Ponzin, Diego, Nigro, Vincenzo, di Bernardo, Diego, Banfi, Sandro
Publicado 2016

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

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

MicroRNA-Restricted Transgene Expression in the Retina

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

MiR-211 is essential for adult cone photoreceptor maintenance and visual function

por Barbato, Sara, Marrocco, Elena, Intartaglia, Daniela, Pizzo, Mariateresa, Asteriti, Sabrina, Naso, Federica, Falanga, Danila, Bhat, Rajeshwari S., Meola, Nicola, Carissimo, Annamaria, Karali, Marianthi, Prosser, Haydn M., Cangiano, Lorenzo, Surace, Enrico Maria, Banfi, Sandro, Conte, Ivan
Publicado 2017

An atlas of gene expression and gene co-regulation in the human retina

por Pinelli, Michele, Carissimo, Annamaria, Cutillo, Luisa, Lai, Ching-Hung, Mutarelli, Margherita, Moretti, Maria Nicoletta, Singh, Marwah Veer, Karali, Marianthi, Carrella, Diego, Pizzo, Mariateresa, Russo, Francesco, Ferrari, Stefano, Ponzin, Diego, Angelini, Claudia, Banfi, Sandro, di Bernardo, Diego
Publicado 2016

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

por Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P. M., Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro
Publicado 2022