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Year Number of Results
2010 2
2011 2
2012 4
2013 3
2014 5
2015 6
2016 3
2017 2
2018 2
2020 2
2021 5
2022 8
2023 11
2024 6

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Page 1
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.
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.
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.
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
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.
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
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.
Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA; the LHON Study Group. Carelli V, et al. Ophthalmol Ther. 2023 Feb;12(1):401-429. doi: 10.1007/s40123-022-00611-x. Epub 2022 Nov 30. Ophthalmol Ther. 2023. PMID: 36449262 Free PMC article.
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy.
Carbonelli M, La Morgia C, Romagnoli M, Amore G, D'Agati P, Valentino ML, Caporali L, Cascavilla ML, Battista M, Borrelli E, Di Renzo A, Parisi V, Balducci N, Carelli V, Barboni P. Carbonelli M, et al. Among authors: cascavilla ml. Am J Ophthalmol. 2022 Sep;241:71-79. doi: 10.1016/j.ajo.2022.04.016. Epub 2022 May 2. Am J Ophthalmol. 2022. PMID: 35513027 Free article.
50 results