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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: rizzo g. Hum Mutat. 2014 Aug;35(8):954-8. doi: 10.1002/humu.22596. Epub 2014 Jun 28. Hum Mutat. 2014. PMID: 24863938
Diffusion-weighted imaging study of patients with essential tremor.
Martinelli P, Rizzo G, Manners D, Tonon C, Pizza F, Testa C, Scaglione C, Barbiroli B, Lodi R. Martinelli P, et al. Among authors: rizzo g. Mov Disord. 2007 Jun 15;22(8):1182-5. doi: 10.1002/mds.21287. Mov Disord. 2007. PMID: 17469200
Visual system involvement in patients with Friedreich's ataxia.
Fortuna F, Barboni P, Liguori R, Valentino ML, Savini G, Gellera C, Mariotti C, Rizzo G, Tonon C, Manners D, Lodi R, Sadun AA, Carelli V. Fortuna F, et al. Among authors: rizzo g. Brain. 2009 Jan;132(Pt 1):116-23. doi: 10.1093/brain/awn269. Epub 2008 Oct 18. Brain. 2009. PMID: 18931386
Brain diffusion-weighted imaging in Friedreich's ataxia.
Rizzo G, Tonon C, Valentino ML, Manners D, Fortuna F, Gellera C, Pini A, Ghezzo A, Baruzzi A, Testa C, Malucelli E, Barbiroli B, Carelli V, Lodi R. Rizzo G, et al. Mov Disord. 2011 Mar;26(4):705-12. doi: 10.1002/mds.23518. Epub 2011 Mar 2. Mov Disord. 2011. PMID: 21370259
Idebenone treatment in Leber's hereditary optic neuropathy.
Carelli V, La Morgia C, Valentino ML, Rizzo G, Carbonelli M, De Negri AM, Sadun F, Carta A, Guerriero S, Simonelli F, Sadun AA, Aggarwal D, Liguori R, Avoni P, Baruzzi A, Zeviani M, Montagna P, Barboni P. Carelli V, et al. Among authors: rizzo g. Brain. 2011 Sep;134(Pt 9):e188. doi: 10.1093/brain/awr180. Epub 2011 Aug 2. Brain. 2011. PMID: 21810891 No abstract available.
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: rizzo g. 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
Secondary post-geniculate involvement in Leber's hereditary optic neuropathy.
Rizzo G, Tozer KR, Tonon C, Manners D, Testa C, Malucelli E, Valentino ML, La Morgia C, Barboni P, Randhawa RS, Ross-Cisneros FN, Sadun AA, Carelli V, Lodi R. Rizzo G, et al. PLoS One. 2012;7(11):e50230. doi: 10.1371/journal.pone.0050230. Epub 2012 Nov 27. PLoS One. 2012. PMID: 23209682 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: rizzo g. 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.
Diffusivity of cerebellar hemispheres enables discrimination of cerebellar or parkinsonian multiple system atrophy from progressive supranuclear palsy-Richardson syndrome and Parkinson disease.
Nicoletti G, Rizzo G, Barbagallo G, Tonon C, Condino F, Manners D, Messina D, Testa C, Arabia G, Gambardella A, Lodi R, Quattrone A. Nicoletti G, et al. Among authors: rizzo g. Radiology. 2013 Jun;267(3):843-50. doi: 10.1148/radiol.12120364. Epub 2013 Jan 17. Radiology. 2013. PMID: 23329659
1,619 results