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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: palombo f. 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.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: palombo f. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Palombo F, et al. Hum Genet. 2020 Nov;139(11):1429-1441. doi: 10.1007/s00439-020-02187-7. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488467 Free article.
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
Rajabian F, Manitto MP, Palombo F, Caporali L, Grazioli A, Starace V, Arrigo A, Cascavilla ML, La Morgia C, Barboni P, Bandello F, Carelli V, Battaglia Parodi M. Rajabian F, et al. Among authors: palombo f. J Neuroophthalmol. 2021 Sep 1;41(3):e290-e292. doi: 10.1097/WNO.0000000000001124. J Neuroophthalmol. 2021. PMID: 33136666 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: palombo f. 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. 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.
421 results