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Year Number of Results
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62 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: cascavilla ml. 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.
Gene therapy for Leber hereditary optic neuropathy.
Battista M, Carelli V, Bottazzi L, Bandello F, Cascavilla ML, Barboni P. Battista M, et al. Among authors: cascavilla ml. Expert Opin Biol Ther. 2024 Jun;24(6):521-528. doi: 10.1080/14712598.2024.2359015. Epub 2024 Jun 28. Expert Opin Biol Ther. 2024. PMID: 38939999 Review.
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: cascavilla ml. 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.
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: cascavilla ml. 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
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients.
Coutinho CP, Zanchetta F, Carbonelli M, Battista M, Galzignato A, La Morgia C, Amore G, Romagnoli M, Savini G, Brotto L, Nucci P, Caporali L, Bandello F, Carelli V, Cascavilla ML, Fioresi R, Barboni P. Coutinho CP, et al. Among authors: cascavilla ml. Transl Vis Sci Technol. 2025 Jun 2;14(6):20. doi: 10.1167/tvst.14.6.20. Transl Vis Sci Technol. 2025. PMID: 40492996 Free PMC article.
Choroidal vascularity index in hereditary optic neuropathies.
Battista M, Cascavilla ML, Borrelli E, Barresi C, Lari G, Caporali L, Viganò C, Berni A, Carelli V, Bandello F, Barboni P. Battista M, et al. Among authors: cascavilla ml. Eye (Lond). 2023 Sep;37(13):2679-2684. doi: 10.1038/s41433-023-02383-5. Epub 2023 Feb 7. Eye (Lond). 2023. PMID: 36747110 Free PMC article.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L. Fiorini C, et al. Among authors: cascavilla ml. J Med Genet. 2023 Dec 21;61(1):93-101. doi: 10.1136/jmg-2023-109340. J Med Genet. 2023. PMID: 37734847 Free PMC article.
SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.
Frontino G, Delvecchio M, Prudente S, Sordi VD, Barboni P, Di Giamberardino A, Rutigliano A, Pellegrini S, Caretto A, Cascavilla ML, Bonfanti R, D'Annunzio G, Lombardo F, Piemonti L. Frontino G, et al. Among authors: cascavilla ml. J Endocrinol Invest. 2025 Mar;48(3):507-525. doi: 10.1007/s40618-024-02495-z. Epub 2024 Nov 11. J Endocrinol Invest. 2025. PMID: 39527371 Free PMC article. Review.
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.
Barboni P, Amore G, Cascavilla ML, Battista M, Frontino G, Romagnoli M, Caporali L, Baldoli C, Gramegna LL, Sessagesimi E, Bonfanti R, Romagnoli A, Scotti R, Brambati M, Carbonelli M, Starace V, Fiorini C, Panebianco R, Parisi V, Tonon C, Bandello F, Carelli V, La Morgia C. Barboni P, et al. Among authors: cascavilla ml. Am J Ophthalmol. 2022 Sep;241:206-216. doi: 10.1016/j.ajo.2022.03.019. Epub 2022 Apr 20. Am J Ophthalmol. 2022. PMID: 35452662 Review.
62 results