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Page 1
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Fiorini C, Ormanbekova D, Palombo F, Carbonelli M, Amore G, Romagnoli M, d'Agati P, Valentino ML, Barboni P, Cascavilla ML, De Negri A, Sadun F, Carta A, Testa F, Petruzzella V, Guerriero S, Bianchi Marzoli S, Carelli V, La Morgia C, Caporali L. Fiorini C, et al. Brain. 2023 Sep 1;146(9):e67-e70. doi: 10.1093/brain/awad080. Brain. 2023. PMID: 36913248 Free PMC article. No abstract available.
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. Cameli C, et al. Among authors: fiorini c. J Cell Mol Med. 2021 Mar;25(5):2459-2470. doi: 10.1111/jcmm.16161. Epub 2021 Jan 21. J Cell Mol Med. 2021. PMID: 33476483 Free PMC article.
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.
Palombo F, Peron C, Caporali L, Iannielli A, Maresca A, Di Meo I, Fiorini C, Segnali A, Sciacca FL, Rizzo A, Levi S, Suomalainen A, Prigione A, Broccoli V, Carelli V, Tiranti V. Palombo F, et al. Among authors: fiorini c. Stem Cell Reports. 2021 Aug 10;16(8):1953-1967. doi: 10.1016/j.stemcr.2021.06.016. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329598 Free PMC article.
Papillary thyroid carcinoma tall cell variant shares accumulation of mitochondria, mitochondrial DNA mutations, and loss of oxidative phosphorylation complex I integrity with oncocytic tumors.
Tsybrovskyy O, De Luise M, de Biase D, Caporali L, Fiorini C, Gasparre G, Carelli V, Hackl D, Imamovic L, Haim S, Sobrinho-Simões M, Tallini G. Tsybrovskyy O, et al. Among authors: fiorini c. J Pathol Clin Res. 2022 Mar;8(2):155-168. doi: 10.1002/cjp2.247. Epub 2021 Nov 17. J Pathol Clin Res. 2022. PMID: 34792302 Free PMC article.
Association of rs3027178 polymorphism in the circadian clock gene PER1 with susceptibility to Alzheimer's disease and longevity in an Italian population.
Bacalini MG, Palombo F, Garagnani P, Giuliani C, Fiorini C, Caporali L, Stanzani Maserati M, Capellari S, Romagnoli M, De Fanti S, Benussi L, Binetti G, Ghidoni R, Galimberti D, Scarpini E, Arcaro M, Bonanni E, Siciliano G, Maestri M, Guarnieri B; Italian Multicentric Group on clock genes, actigraphy in AD; Martucci M, Monti D, Carelli V, Franceschi C, La Morgia C, Santoro A. Bacalini MG, et al. Among authors: fiorini c. Geroscience. 2022 Apr;44(2):881-896. doi: 10.1007/s11357-021-00477-0. Epub 2021 Dec 18. Geroscience. 2022. PMID: 34921659 Free PMC article.
The role of mtDNA haplogroups on metabolic features in narcolepsy type 1.
Caporali L, Moresco M, Pizza F, La Morgia C, Fiorini C, Strobbe D, Zenesini C, Hooshiar Kashani B, Torroni A, Pagotto U, Carelli V, Plazzi G. Caporali L, et al. Among authors: fiorini c. Mitochondrion. 2022 Mar;63:37-42. doi: 10.1016/j.mito.2022.01.005. Epub 2022 Jan 17. Mitochondrion. 2022. PMID: 35051655
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.
Barboni P, Amore G, Cascavilla ML, Battista M, Frontino G, Romagnoli M, Caporali L, Baldoli C, Gramegna LL, Sessagesimi E, Bonfanti R, Romagnoli A, Scotti R, Brambati M, Carbonelli M, Starace V, Fiorini C, Panebianco R, Parisi V, Tonon C, Bandello F, Carelli V, La Morgia C. Barboni P, et al. Among authors: fiorini c. Am J Ophthalmol. 2022 Sep;241:206-216. doi: 10.1016/j.ajo.2022.03.019. Epub 2022 Apr 20. Am J Ophthalmol. 2022. PMID: 35452662 Review.
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant.
Barone V, La Morgia C, Caporali L, Fiorini C, Carbonelli M, Gramegna LL, Bartiromo F, Tonon C, Morandi L, Liguori R, Petrini A, Brugnano R, Del Sordo R, Covarelli C, Morroni M, Lodi R, Carelli V. Barone V, et al. Among authors: fiorini c. Front Genet. 2022 Jun 3;13:887696. doi: 10.3389/fgene.2022.887696. eCollection 2022. Front Genet. 2022. PMID: 35719398 Free PMC article.
152 results