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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: de nardo v. 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: de nardo v. 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.
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: de nardo v. 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.
The impact of cannabis use on age of onset and clinical characteristics in first-episode psychotic patients. Data from the Psychosis Incident Cohort Outcome Study (PICOS).
Tosato S, Lasalvia A, Bonetto C, Mazzoncini R, Cristofalo D, De Santi K, Bertani M, Bissoli S, Lazzarotto L, Marrella G, Lamonaca D, Riolo R, Gardellin F, Urbani A, Tansella M, Ruggeri M; PICOS-VENETO Group. Tosato S, et al. J Psychiatr Res. 2013 Apr;47(4):438-44. doi: 10.1016/j.jpsychires.2012.11.009. Epub 2013 Jan 4. J Psychiatr Res. 2013. PMID: 23290558
Psychosis Incident Cohort Outcome Study (PICOS). A multisite study of clinical, social and biological characteristics, patterns of care and predictors of outcome in first-episode psychosis. Background, methodology and overview of the patient sample.
Lasalvia A, Tosato S, Brambilla P, Bertani M, Bonetto C, Cristofalo D, Bissoli S, De Santi K, Lazzarotto L, Zanatta G, Marrella G, Mazzoncini R, Zanoni M, Garzotto N, Dolce C, Nicolau S, Ramon L, Perlini C, Rambaldelli G, Bellani M, Tansella M, Ruggeri M; PICOS-Veneto Group. Lasalvia A, et al. Epidemiol Psychiatr Sci. 2012 Sep;21(3):281-303. doi: 10.1017/S2045796012000315. Epub 2012 Jun 15. Epidemiol Psychiatr Sci. 2012. PMID: 22794251
[Heterogeneity of the Departments of Mental Health in the Veneto Region ten years after the National Plan 1994-96 for Mental Health. Which implication for clinical practice? Findings from the PICOS Project].
Lasalvia A, Gentile B, Ruggeri M, Marcolin A, Nosè F, Cappellari L, Lamonaca D, Toniolo E, Busana C, Campedelli A, Cuccato G, Danieli A, De Nardi F, De Nardo V, Destro E, Favaretto G, Frazzingaro S, Giacopuzzi M, Pristinger P, Pullia G, Rodighiero S, Tito P, Aprile F, Nicolaou S, Coppola G, Garzotto N, Gottardi U, Lazzarin E, Migliorini G, Pavan L, Ramaciotti F, Roveroni P, Russo S, Urbani P, Tansella M; Gruppo Picos-Veneto. Lasalvia A, et al. Among authors: de nardo v. Epidemiol Psichiatr Soc. 2007 Jan-Mar;16(1):59-70. Epidemiol Psichiatr Soc. 2007. PMID: 17427605 Italian.
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