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Page 1
Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm.
Barboni P, Battista M, Brotto L, Nucci P, Checchin L, Bandello F, Fiorini C, Ormanbekova D, Carelli V, Cascavilla ML, Caporali L. Barboni P, et al. Among authors: cascavilla ml. J Neuroophthalmol. 2024 Feb 21. doi: 10.1097/WNO.0000000000002117. Online ahead of print. J Neuroophthalmol. 2024. PMID: 38381526 No abstract available.
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.
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.
Association of Circulating Antiretinal Antibodies With Clinical Outcomes in Retinitis Pigmentosa.
Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Panina-Bordignon P, Peri C, Brambilla E, Pina A, Basile G, Hassan Farah R, Saladino A, Aragona E, Cascavilla ML, Bandello F, Battaglia Parodi M, Pulido JS. Bianco L, et al. Among authors: cascavilla ml. Invest Ophthalmol Vis Sci. 2023 Dec 1;64(15):13. doi: 10.1167/iovs.64.15.13. Invest Ophthalmol Vis Sci. 2023. PMID: 38088826 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.
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: cascavilla ml. 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
Wolfram Syndrome: Only a Neurodegenerative Disease or Also a Maculopathy?
Tombolini B, Battista M, Borrelli E, Frontino G, Bandello F, Barboni P, Cascavilla ML. Tombolini B, et al. Among authors: cascavilla ml. J Neuroophthalmol. 2023 Aug 14. doi: 10.1097/WNO.0000000000001981. Online ahead of print. J Neuroophthalmol. 2023. PMID: 37581949 No abstract available.
57 results