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Retina June 2024

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

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Francesco Testa; Ester Carreño; L. Ingeborgh van den Born; Paolo Melillo; Irene Perea-Romero; Valentina Di Iorio; Giulia Risca; Clemente Maria Iodice; Ronald J. E. Pennings; Marianthi Karali; Sandro Banfi; Alberto Auricchio; Stefania Galimberti; Carmen Ayuso; Francesca Simonelli
TAGS: cohort studies, disease progression, european continental ancestry group, gene therapy, prospective studies, usher syndrome, eye
Invest. Ophthalmol. Vis. Sci.. 2024; 65(6):25. https://doi.org/10.1167/iovs.65.6.25

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2024

Chorioretinal atrophy after treatment with Voretigene Neparvovec in clinical practice

Michele Della Corte; Paolo Melillo; Clemente Maria Iodice; Valentina Di Iorio; Danila Pisani; Amelia Citro; Settimio Rossi; Marianthi Karali; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):910.

ARVO Annual Meeting Abstract June 2024

Multicentric longitudinal prospective study in Usher Syndrome due to MYO7A mutations: disease course and implications for gene therapy

Clemente Maria Iodice; Ester Carreño; L. Ingeborgh van den Born; Paolo Melillo; Irene Perea-Romero; Valentina Di Iorio; Giulia Risca; Ronald J.E. Pennings; Marianthi Karali; Sandro Banfi; Alberto Auricchio; Stefania Galimberti; Francesco Testa; Carmen Ayuso; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2136.

ARVO Annual Meeting Abstract June 2024

Cystoid Macular Edema in Patients with Retinitis Pigmentosa and its Genetic Association

Danila Pisani; Marianthi Karali; Valentina Di Iorio; Lorenzo Cantile; Emanuele Madonna; Antonio Niccolò; Raffaella Colucci; Antonella De Benedictis; Paolo Melillo; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3116.

ARVO Annual Meeting Abstract June 2024

Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

Dalila Capasso; Roberta Zeuli; Marianthi Karali; Raoul Timmermans; Michael Kwint; Enza Maria Valente; Sabrina Signorini; Gavin Arno; Frans Cremers; Sandro Banfi; Susanne Roosing; Daan Panneman; Suzanne E. de Bruijn

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4937.

ARVO Annual Meeting Abstract June 2024

Early Onset Macular Drusen associated to rare variants in CFH-gene

Luciana Damiano; Marianthi Karali; Clemente Maria Iodice; Danila Pisani; Valentina Di Iorio; Anna Nesti; Paolo Melillo; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4436.

ARVO Annual Meeting Abstract June 2023

Clinical findings in Retinitis Pigmentosa related to CNGB1 variants

Andrea Attilio Rosolia; Valentina Di Iorio; Marianthi Karali; Anna Nesti; Paolo Melillo; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4665.

ARVO Annual Meeting Abstract June 2023

Longitudinal natural history study of dominant retinitis pigmentosa due to RHO gene mutations

Clemente Maria Iodice; Valentina Di Iorio; Antonella De Benedictis; Gabriella Esposito; Marianthi Karali; Paolo Melillo; Francesco Testa; Sandro Banfi; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4652.

Retina February 2022

RPE65 -Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

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Francesco Testa; Vittoria Murro; Sabrina Signorini; Leonardo Colombo; Giancarlo Iarossi; Francesco Parmeggiani; Benedetto Falsini; Anna Paola Salvetti; Raffaella Brunetti-Pierri; Giorgia Aprile; Chiara Bertone; Agnese Suppiej; Francesco Romano; Marianthi Karali; Simone Donati; Paolo Melillo; Andrea Sodi; Luciano Quaranta; Luca Rossetti; Luca Buzzonetti; Marzio Chizzolini; Stanislao Rizzo; Giovanni Staurenghi; Sandro Banfi; Claudio Azzolini; Francesca Simonelli
TAGS: italian, rpe65 protein, cohort studies, retinal diseases, natural history, italy
Invest. Ophthalmol. Vis. Sci.. 2022; 63(2):13. https://doi.org/10.1167/iovs.63.2.13

Special Issue September 2021

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

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

Trans. Vis. Sci. Tech.. 2021; 10(10):11. https://doi.org/10.1167/tvst.10.10.11

Retina July 2021

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

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Francesco Testa; Andrea Sodi; Sabrina Signorini; Valentina Di Iorio; Vittoria Murro; Raffaella Brunetti-Pierri; Enza Maria Valente; Marianthi Karali; Paolo Melillo; Sandro Banfi; Francesca Simonelli
TAGS: cohort studies, genes, longitudinal studies, mutation, phenotype, severity of illness, pathologic nystagmus, introns, genotype, electroretinography
Invest. Ophthalmol. Vis. Sci.. 2021; 62(9):1. https://doi.org/10.1167/iovs.62.9.1

ARVO Annual Meeting Abstract June 2021

Definition of the organization of the ABCA4 transcriptional unit by meta-analysis of transcriptome data

Karla Alejandra Ruiz Ceja; Michele Pinelli; Marianthi Karali; Antonella Iuliano; Mario Failli; Lucio Di Filippo; Diego di Bernardo; Sandro Banfi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1560.

Retina December 2020

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

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

Invest. Ophthalmol. Vis. Sci.. 2020; 61(14):36. https://doi.org/10.1167/iovs.61.14.36

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study

Francesco Testa; Ester Carreño; Koen Vermeer; Valentina Di lorio; Belen Jimenez-Rolando; Marianthi Karali; Blanca Garcia Sandoval; Irene Perea Romero; José Millán Salvador; Paolo Melillo; Sandro Banfi; Alberto Auricchio; L. Ingeborgh van den Born; Carmen Ayuso; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1905.

ARVO Annual Meeting Abstract June 2020

Two cases with Fundus albipunctatus due to mutations in RPE65 gene

Valentina Di lorio; Raffaella Brunetti-Pierri; Marianthi Karali; Fabio Calzolaio; Chiara Malafronte; Antonella De Benedictis; Sandro Banfi; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3044.

ARVO Annual Meeting Abstract June 2020

Pericentral Retinitis Pigmentosa is associated with a high prevalence of USH2A pathogenic variants in an Italian cohort of patients

Raffaella Brunetti-Pierri; Paolo Melillo; Valentina Di lorio; Marianthi Karali; Chiara Angeli; anna nesti; Maria Rosaria Barillari; Sandro Banfi; Francesco Testa; Francesca Simonelli

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):3045.

ARVO Annual Meeting Abstract July 2019

miR-204 overexpression exerts a protective role in inherited retinal diseases

Sandro Banfi; Marianthi Karali; Irene Guadagnino; Elena Marrocco; Mariateresa Pizzo; Rossella De Cegli; Annamaria Carissimo; Ivan Conte; Enrico Maria Surace

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4927.

ARVO Annual Meeting Abstract September 2016

A high-resolution view of the human retina miRNome

Sandro Banfi; Marianthi Karali; Maria Persico; Margherita Mutarelli; Annamaria Carissimo; Mariateresa Pizzo; Concetta Ambrosio; Michele Pinelli; Diego di Bernardo

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12)

Anatomy and Pathology/Oncology June 2008

A High-Resolution RNA Expression Atlas of Retinitis Pigmentosa Genes in Human and Mouse Retinas

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Dragana Trifunović; Marianthi Karali; Davide Camposampiero; Diego Ponzin; Sandro Banfi; Valeria Marigo
TAGS: genes, mice, retina, retinitis pigmentosa, rna, transcription, genetic, photoreceptors
Invest. Ophthalmol. Vis. Sci.. 2008; 49(6):2330-2336. https://doi.org/10.1167/iovs.07-1513

Includes: Supplemental Content

Biochemistry and Molecular Biology February 2007

Identification and Characterization of MicroRNAs Expressed in the Mouse Eye

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Marianthi Karali; Ivana Peluso; Valeria Marigo; Sandro Banfi
TAGS: eye, mice, micrornas, rna, retina
Invest. Ophthalmol. Vis. Sci.. 2007; 48(2):509-515. https://doi.org/10.1167/iovs.06-0866

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Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

Chorioretinal atrophy after treatment with Voretigene Neparvovec in clinical practice

Multicentric longitudinal prospective study in Usher Syndrome due to MYO7A mutations: disease course and implications for gene therapy

Cystoid Macular Edema in Patients with Retinitis Pigmentosa and its Genetic Association

Long-read RNA sequencing identifies a pathogenic retrotransposon insertion in NMNAT1 in Italian probands

Early Onset Macular Drusen associated to rare variants in CFH-gene

Clinical findings in Retinitis Pigmentosa related to CNGB1 variants

Longitudinal natural history study of dominant retinitis pigmentosa due to RHO gene mutations

RPE65 -Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

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

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

Definition of the organization of the ABCA4 transcriptional unit by meta-analysis of transcriptome data

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

Baseline characteristics of patients with Usher Syndrome due to MYO7A mutations enrolled in a prospective natural history study

Two cases with Fundus albipunctatus due to mutations in RPE65 gene

Pericentral Retinitis Pigmentosa is associated with a high prevalence of USH2A pathogenic variants in an Italian cohort of patients

miR-204 overexpression exerts a protective role in inherited retinal diseases

A high-resolution view of the human retina miRNome

A High-Resolution RNA Expression Atlas of Retinitis Pigmentosa Genes in Human and Mouse Retinas

Identification and Characterization of MicroRNAs Expressed in the Mouse Eye

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