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Page 1
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T, Licchetta L, Baldassari S, Marconi C, De Luise M, Myers C, Nardi E, Provini F, Cameli C, Minardi R, Bacchelli E, Giordano L, Crichiutti G, d'Orsi G, Seri M, Gasparre G, Mefford HC, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission. Pippucci T, et al. Among authors: gasparre g. Ann Clin Transl Neurol. 2019 Feb 25;6(3):475-485. doi: 10.1002/acn3.722. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911571 Free PMC article.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: gasparre g. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
Targeting respiratory complex I to prevent the Warburg effect.
Vatrinet R, Iommarini L, Kurelac I, De Luise M, Gasparre G, Porcelli AM. Vatrinet R, et al. Among authors: gasparre g. Int J Biochem Cell Biol. 2015 Jun;63:41-5. doi: 10.1016/j.biocel.2015.01.017. Epub 2015 Feb 7. Int J Biochem Cell Biol. 2015. PMID: 25668477 Review.
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M. Pippucci T, et al. Among authors: gasparre g. EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399. EMBO Mol Med. 2015. PMID: 25870235 Free PMC article.
The α-ketoglutarate dehydrogenase complex in cancer metabolic plasticity.
Vatrinet R, Leone G, De Luise M, Girolimetti G, Vidone M, Gasparre G, Porcelli AM. Vatrinet R, et al. Among authors: gasparre g. Cancer Metab. 2017 Feb 2;5:3. doi: 10.1186/s40170-017-0165-0. eCollection 2017. Cancer Metab. 2017. PMID: 28184304 Free PMC article. Review.
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: gasparre g. 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.
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.
De Luise M, Iommarini L, Marchio L, Tedesco G, Coadă CA, Repaci A, Turchetti D, Tardio ML, Salfi N, Pagotto U, Kurelac I, Porcelli AM, Gasparre G. De Luise M, et al. Among authors: gasparre g. Cells. 2021 Oct 28;10(11):2920. doi: 10.3390/cells10112920. Cells. 2021. PMID: 34831144 Free PMC article.
131 results