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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.
Natural history of patients with Leber hereditary optic neuropathy-results from the REALITY study.
Yu-Wai-Man P, Newman NJ, Carelli V, La Morgia C, Biousse V, Bandello FM, Clermont CV, Campillo LC, Leruez S, Moster ML, Cestari DM, Foroozan R, Sadun A, Karanjia R, Jurkute N, Blouin L, Taiel M, Sahel JA; LHON REALITY Study Group. Yu-Wai-Man P, et al. Eye (Lond). 2022 Apr;36(4):818-826. doi: 10.1038/s41433-021-01535-9. Epub 2021 Apr 28. Eye (Lond). 2022. PMID: 33911213 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.
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.
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
64 results