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469 results

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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: zeviani m. 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: zeviani m. Ophthalmology. 2010 Aug;117(8):1547-53. doi: 10.1016/j.ophtha.2009.12.042. Epub 2010 Apr 24. Ophthalmology. 2010. PMID: 20417568
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.
Lodi R, Tonon C, Valentino ML, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B, Carelli V. Lodi R, et al. Among authors: zeviani m. Arch Neurol. 2011 Jan;68(1):67-73. doi: 10.1001/archneurol.2010.228. Epub 2010 Sep 13. Arch Neurol. 2011. PMID: 20837821
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: zeviani m. 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.
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A, Zeviani M. Carelli V, et al. Among authors: zeviani m. Ann Neurol. 2015 Jul;78(1):21-38. doi: 10.1002/ana.24410. Epub 2015 Jun 10. Ann Neurol. 2015. PMID: 25820230 Free PMC article.
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F. Caporali L, et al. Among authors: zeviani m. Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21. Ann Neurol. 2020. PMID: 32219868 Free PMC article.
Mitochondrial disorders.
Zeviani M, Carelli V. Zeviani M, et al. Curr Opin Neurol. 2003 Oct;16(5):585-94. doi: 10.1097/01.wco.0000093101.34793.c8. Curr Opin Neurol. 2003. PMID: 14501842 Review.
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A. Carelli V, et al. Among authors: zeviani m. Am J Hum Genet. 2006 Apr;78(4):564-74. doi: 10.1086/501236. Epub 2006 Jan 27. Am J Hum Genet. 2006. PMID: 16532388 Free PMC article.
469 results