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'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: rugolo m. 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.
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: rugolo 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.
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. Amati-Bonneau P, et al. Among authors: rugolo m. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub 2007 Dec 24. Brain. 2008. PMID: 18158317 Free 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
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.
Del Dotto V, Mishra P, Vidoni S, Fogazza M, Maresca A, Caporali L, McCaffery JM, Cappelletti M, Baruffini E, Lenaers G, Chan D, Rugolo M, Carelli V, Zanna C. Del Dotto V, et al. Among authors: rugolo m. Cell Rep. 2017 Jun 20;19(12):2557-2571. doi: 10.1016/j.celrep.2017.05.073. Cell Rep. 2017. PMID: 28636943 Free article.
Eight human OPA1 isoforms, long and short: What are they for?
Del Dotto V, Fogazza M, Carelli V, Rugolo M, Zanna C. Del Dotto V, et al. Among authors: rugolo m. Biochim Biophys Acta Bioenerg. 2018 Apr;1859(4):263-269. doi: 10.1016/j.bbabio.2018.01.005. Epub 2018 Jan 31. Biochim Biophys Acta Bioenerg. 2018. PMID: 29382469 Free article. Review.
OPA1: How much do we know to approach therapy?
Del Dotto V, Fogazza M, Lenaers G, Rugolo M, Carelli V, Zanna C. Del Dotto V, et al. Among authors: rugolo m. Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Pharmacol Res. 2018. PMID: 29454676 Review.
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models.
Del Dotto V, Fogazza M, Musiani F, Maresca A, Aleo SJ, Caporali L, La Morgia C, Nolli C, Lodi T, Goffrini P, Chan D, Carelli V, Rugolo M, Baruffini E, Zanna C. Del Dotto V, et al. Among authors: rugolo m. Biochim Biophys Acta Mol Basis Dis. 2018 Oct;1864(10):3496-3514. doi: 10.1016/j.bbadis.2018.08.004. Epub 2018 Aug 4. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30293569 Free article.
100 results