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Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant.
Barone V, La Morgia C, Caporali L, Fiorini C, Carbonelli M, Gramegna LL, Bartiromo F, Tonon C, Morandi L, Liguori R, Petrini A, Brugnano R, Del Sordo R, Covarelli C, Morroni M, Lodi R, Carelli V. Barone V, et al. Among authors: carbonelli m. Front Genet. 2022 Jun 3;13:887696. doi: 10.3389/fgene.2022.887696. eCollection 2022. Front Genet. 2022. PMID: 35719398 Free PMC article.
Leber's hereditary optic neuropathy with childhood onset.
Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F, Carta A, Carbonelli M, Sadun AA, Carelli V. Barboni P, et al. Among authors: carbonelli m. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5303-9. doi: 10.1167/iovs.06-0520. Invest Ophthalmol Vis Sci. 2006. PMID: 17122117
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: carbonelli m. Arch Neurol. 2011 Jan;68(1):67-73. doi: 10.1001/archneurol.2010.228. Epub 2010 Sep 13. Arch Neurol. 2011. PMID: 20837821
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?
La Morgia C, Barboni P, Rizzo G, Carbonelli M, Savini G, Scaglione C, Capellari S, Bonazza S, Giannoccaro MP, Calandra-Buonaura G, Liguori R, Cortelli P, Martinelli P, Baruzzi A, Carelli V. La Morgia C, et al. Among authors: carbonelli m. Eur J Neurol. 2013 Jan;20(1):198-201. doi: 10.1111/j.1468-1331.2012.03701.x. Epub 2012 Mar 21. Eur J Neurol. 2013. PMID: 22436028
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: carbonelli 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.
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
Carossa V, Ghelli A, Tropeano CV, Valentino ML, Iommarini L, Maresca A, Caporali L, La Morgia C, Liguori R, Barboni P, Carbonelli M, Rizzo G, Tonon C, Lodi R, Martinuzzi A, De Nardo V, Rugolo M, Ferretti L, Gandini F, Pala M, Achilli A, Olivieri A, Torroni A, Carelli V. Carossa V, et al. Among authors: carbonelli m. Hum Mutat. 2014 Aug;35(8):954-8. doi: 10.1002/humu.22596. Epub 2014 Jun 28. Hum Mutat. 2014. PMID: 24863938
Medical management of hereditary optic neuropathies.
La Morgia C, Carbonelli M, Barboni P, Sadun AA, Carelli V. La Morgia C, et al. Among authors: carbonelli m. Front Neurol. 2014 Jul 31;5:141. doi: 10.3389/fneur.2014.00141. eCollection 2014. Front Neurol. 2014. PMID: 25132831 Free PMC article. Review.
110 results