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68 results

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Page 1
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Aleo SJ, et al. Among authors: de negri a. Cell Rep Med. 2024 Feb 20;5(2):101383. doi: 10.1016/j.xcrm.2023.101383. Epub 2024 Jan 24. Cell Rep Med. 2024. PMID: 38272025 Free PMC article.
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C. Amore G, et al. Among authors: de negri am. Am J Ophthalmol. 2024 Jun;262:114-124. doi: 10.1016/j.ajo.2024.01.011. Epub 2024 Jan 24. Am J Ophthalmol. 2024. PMID: 38278202 Free article.
Achieving sustainable health equity.
Castro A, Marmot M, Garay J, de Negri A, Buss P; Sustainable Health Equity Movement. Castro A, et al. Among authors: de negri a. Bull World Health Organ. 2022 Jan 1;100(1):81-83. doi: 10.2471/BLT.21.286523. Epub 2021 Nov 25. Bull World Health Organ. 2022. PMID: 35017761 Free PMC article. No abstract available.
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Fiorini C, Jurkute N, Torraco A, La Morgia C, Ghezzi D, Tioli G, Rigobello L, Ormanbekova D, Berghella A, Pietro Pasti A, Palombo F, Barboni P, Lucia Cascavilla M, Sadun F, De Negri A, Bertini E, Musumeci O, Ardissone A, Rizza T, Iarossi G, Silvestri G, Rossi S, Altobelli A, Moore AT, Cullup T, Webster AR, Davagnanam I, Michaelides M, Malka S, Ptackova H, Stufkova H, Tesarova M, Liskova P, Zeng L, Klopstock T, Kopajtich R, Neuhofer C, Prokisch H, Lamperti C, Sadun AA, Yu-Wai-Man P, Carelli V, Musiani F, Iommarini L, Carrozzo R, Arno G, Caporali L. Fiorini C, et al. Among authors: de negri a. Brain. 2025 Nov 14:awaf422. doi: 10.1093/brain/awaf422. Online ahead of print. Brain. 2025. PMID: 41234160
Childhood-Onset Leber Hereditary Optic Neuropathy-Clinical and Prognostic Insights.
Barboni P, La Morgia C, Cascavilla ML, Hong EH, Battista M, Majander A, Caporali L, Starace V, Amore G, Renzo AD, Carbonelli M, Nucci P, Jurkute N, Chen BS, Panebianco R, De Negri AM, Sadun F, Parisi V, Bandello F, Sadun AA, Carelli V, Yu-Wai-Man P. Barboni P, et al. Among authors: de negri am. Am J Ophthalmol. 2023 May;249:99-107. doi: 10.1016/j.ajo.2022.12.014. Epub 2022 Dec 18. Am J Ophthalmol. 2023. PMID: 36543315
Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with acute Leber's hereditary optic neuropathy.
Borrelli E, Cascavilla ML, Lari G, De Negri AM, Battista M, Galzignato A, Coutinho C, Berni A, Barresi C, Ricciotti G, Bandello F, Barboni P. Borrelli E, et al. Among authors: de negri am. Graefes Arch Clin Exp Ophthalmol. 2024 Jan;262(1):261-265. doi: 10.1007/s00417-023-06205-y. Epub 2023 Aug 16. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 37584789
68 results