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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.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Fiorini C, Ormanbekova D, Palombo F, Carbonelli M, Amore G, Romagnoli M, d'Agati P, Valentino ML, Barboni P, Cascavilla ML, De Negri A, Sadun F, Carta A, Testa F, Petruzzella V, Guerriero S, Bianchi Marzoli S, Carelli V, La Morgia C, Caporali L. Fiorini C, et al. Among authors: de negri a. Brain. 2023 Sep 1;146(9):e67-e70. doi: 10.1093/brain/awad080. Brain. 2023. PMID: 36913248 Free PMC article. No abstract available.
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
Barboni P, Valentino ML, La Morgia C, Carbonelli M, Savini G, De Negri A, Simonelli F, Sadun F, Caporali L, Maresca A, Liguori R, Baruzzi A, Zeviani M, Carelli V. Barboni P, et al. Among authors: de negri a. Brain. 2013 Feb;136(Pt 2):e231. doi: 10.1093/brain/aws280. Epub 2013 Feb 6. Brain. 2013. PMID: 23388408 Clinical Trial. No abstract available.
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
Carelli V, d'Adamo P, Valentino ML, La Morgia C, Ross-Cisneros FN, Caporali L, Maresca A, Loguercio Polosa P, Barboni P, De Negri A, Sadun F, Karanjia R, Salomao SR, Berezovsky A, Chicani F, Moraes M, Moraes Filho M, Belfort R Jr, Sadun AA. Carelli V, et al. Among authors: de negri a. Brain. 2016 Mar;139(Pt 3):e17. doi: 10.1093/brain/awv339. Epub 2015 Dec 10. Brain. 2016. PMID: 26657166 Free PMC article. No abstract available.
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Loguercio Polosa P, Cantatore P, Carelli V. Giordano C, et al. Among authors: de negri a. Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24. Brain. 2014. PMID: 24369379 Free PMC article.
Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.
Barboni P, Savini G, Cascavilla ML, Caporali L, Milesi J, Borrelli E, La Morgia C, Valentino ML, Triolo G, Lembo A, Carta A, De Negri A, Sadun F, Rizzo G, Parisi V, Pierro L, Bianchi Marzoli S, Zeviani M, Sadun AA, Bandello F, Carelli V. Barboni P, et al. Among authors: de negri a. Am J Ophthalmol. 2014 Sep;158(3):628-36.e3. doi: 10.1016/j.ajo.2014.05.034. Epub 2014 Jun 5. Am J Ophthalmol. 2014. PMID: 24907432
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
Barboni P, Carbonelli M, Savini G, Foscarini B, Parisi V, Valentino ML, Carta A, De Negri A, Sadun F, Zeviani M, Sadun AA, Schimpf S, Wissinger B, Carelli V. Barboni P, et al. Among authors: de negri a. Ophthalmology. 2010 Aug;117(8):1547-53. doi: 10.1016/j.ophtha.2009.12.042. Epub 2010 Apr 24. Ophthalmology. 2010. PMID: 20417568