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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: lodi r. Front Genet. 2022 Jun 3;13:887696. doi: 10.3389/fgene.2022.887696. eCollection 2022. Front Genet. 2022. PMID: 35719398 Free PMC article.
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V. Caporali L, et al. Among authors: lodi r. Biochim Biophys Acta. 2013 Mar;1832(3):445-52. doi: 10.1016/j.bbadis.2012.12.002. Epub 2012 Dec 14. Biochim Biophys Acta. 2013. PMID: 23246842 Free PMC article.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Abrams AJ, et al. Among authors: lodi r. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. Nat Genet. 2015. PMID: 26168012 Free PMC article.
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations.
Gramegna LL, Evangelisti S, Di Vito L, La Morgia C, Maresca A, Caporali L, Amore G, Talozzi L, Bianchini C, Testa C, Manners DN, Cortesi I, Valentino ML, Liguori R, Carelli V, Tonon C, Lodi R. Gramegna LL, et al. Among authors: lodi r. Ann Clin Transl Neurol. 2021 Jun;8(6):1200-1211. doi: 10.1002/acn3.51329. Epub 2021 May 5. Ann Clin Transl Neurol. 2021. PMID: 33951347 Free PMC article.
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation.
Evangelisti S, Gramegna LL, La Morgia C, Di Vito L, Maresca A, Talozzi L, Bianchini C, Mitolo M, Manners DN, Caporali L, Valentino ML, Liguori R, Carelli V, Lodi R, Testa C, Tonon C. Evangelisti S, et al. Among authors: lodi r. Mol Genet Metab. 2022 Jan;135(1):72-81. doi: 10.1016/j.ymgme.2021.11.012. Epub 2021 Nov 30. Mol Genet Metab. 2022. PMID: 34916127
Functional MRI study in a case of Charles Bonnet syndrome related to LHON.
Vacchiano V, Tonon C, Mitolo M, Evangelisti S, Carbonelli M, Liguori R, Lodi R, Carelli V, La Morgia C. Vacchiano V, et al. Among authors: lodi r. BMC Neurol. 2019 Dec 30;19(1):350. doi: 10.1186/s12883-019-1579-9. BMC Neurol. 2019. PMID: 31888524 Free PMC article.
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. Arch Neurol. 2011 Jan;68(1):67-73. doi: 10.1001/archneurol.2010.228. Epub 2010 Sep 13. Arch Neurol. 2011. PMID: 20837821
361 results