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Page 1
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B. Carelli V, et al. Among authors: lodi r. Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24. Hum Mol Genet. 2011. PMID: 21349918
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
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.
'Behr syndrome' with OPA1 compound heterozygote mutations.
Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E. Carelli V, et al. Among authors: lodi r. Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. Brain. 2015. PMID: 25146916 Free PMC article. No abstract available.
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
361 results