The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10-Reference-Cited by-同舟云学术

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10

Published:2023-03-13 Issue:9 Volume:146 Page:e67-e70
ISSN:0006-8950
Container-title:Brain
language:en
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Author:

Fiorini Claudio¹,Ormanbekova Danara¹,Palombo Flavia¹,Carbonelli Michele²,Amore Giulia²,Romagnoli Martina¹,d’Agati Pietro¹,Valentino Maria Lucia¹²,Barboni Piero³,Cascavilla Maria Lucia³,De Negri Annamaria⁴,Sadun Federico⁵,Carta Arturo⁶,Testa Francesco⁷,Petruzzella Vittoria⁸,Guerriero Silvana⁸,Bianchi Marzoli Stefania⁹,Carelli Valerio¹²,La Morgia Chiara¹²,Caporali Leonardo¹^ORCID

Affiliation:

1. IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica , 40139 Bologna , Italy

2. Department of Biomedical and Neuromotor Sciences, University of Bologna , 40139 Bologna , Italy

3. Department of Ophthalmology, University Vita-Salute, IRCCS Ospedale San Raffaele , 20132 Milan , Italy

4. Azienda Ospedaliera San Camillo-Forlanini , 00152 Rome , Italy

5. Ospedale Oftalmico Roma , 00136 Rome , Italy

6. Ophthalmology Unit, University Hospital of Parma , 43126 Parma , Italy

7. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli , 80131 Naples , Italy

8. Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari Aldo Moro , 70121 Bari , Italy

9. Neuroophthalmology Service and Ocular Electrophysiology Laboratory, Department of Ophthalmology, IRCCS Istituto Auxologico Italiano , 20122 Milan , Italy

Funder

Ministry of Health

Emilia-Romagna Region

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad080/49879417/awad080.pdf

Reference10 articles.

1. The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands;Rocatcher;Brain,2023

2. Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance leber’s hereditary optic neuropathy;Caporali;PLoS Genet,2018

3. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy;Charif;Brain Commun,2021

4. ATPase domain AFG3L2 mutations Alter OPA1 processing and cause optic neuropathy;Caporali;Ann Neurol,2020

5. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy;Charif;Neurol Genet,2020