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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: rugolo m. Hum Mutat. 2014 Aug;35(8):954-8. doi: 10.1002/humu.22596. Epub 2014 Jun 28. Hum Mutat. 2014. PMID: 24863938
The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.
Ghelli A, Tropeano CV, Calvaruso MA, Marchesini A, Iommarini L, Porcelli AM, Zanna C, De Nardo V, Martinuzzi A, Wibrand F, Vissing J, Kurelac I, Gasparre G, Selamoglu N, Daldal F, Rugolo M. Ghelli A, et al. Among authors: rugolo m. Hum Mol Genet. 2013 Jun 1;22(11):2141-51. doi: 10.1093/hmg/ddt067. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418307 Free PMC article.
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: rugolo m. 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
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.
La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V. La Morgia C, et al. Among authors: rugolo m. Neurology. 2008 Mar 4;70(10):762-70. doi: 10.1212/01.wnl.0000295505.74234.d0. Epub 2008 Jan 23. Neurology. 2008. PMID: 18216301
100 results