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102 results

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Down Syndrome Fetal Fibroblasts Display Alterations of Endosomal Trafficking Possibly due to SYNJ1 Overexpression.
De Rosa L, Fasano D, Zerillo L, Valente V, Izzo A, Mollo N, Amodio G, Polishchuk E, Polishchuk R, Melone MAB, Criscuolo C, Conti A, Nitsch L, Remondelli P, Pierantoni GM, Paladino S. De Rosa L, et al. Among authors: melone mab. Front Genet. 2022 May 13;13:867989. doi: 10.3389/fgene.2022.867989. eCollection 2022. Front Genet. 2022. PMID: 35646085 Free PMC article.
Meldonium improves Huntington's disease mitochondrial dysfunction by restoring peroxisome proliferator-activated receptor γ coactivator 1α expression.
Di Cristo F, Finicelli M, Digilio FA, Paladino S, Valentino A, Scialò F, D'Apolito M, Saturnino C, Galderisi U, Giordano A, Melone MAB, Peluso G. Di Cristo F, et al. Among authors: melone mab. J Cell Physiol. 2019 Jun;234(6):9233-9246. doi: 10.1002/jcp.27602. Epub 2018 Oct 26. J Cell Physiol. 2019. PMID: 30362565
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C. Rossi S, et al. Among authors: melone mab. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
Fighting the Huntington's Disease with a G-Quadruplex-Forming Aptamer Specifically Binding to Mutant Huntingtin Protein: Biophysical Characterization, In Vitro and In Vivo Studies.
Riccardi C, D'Aria F, Digilio FA, Carillo MR, Amato J, Fasano D, De Rosa L, Paladino S, Melone MAB, Montesarchio D, Giancola C. Riccardi C, et al. Among authors: melone mab. Int J Mol Sci. 2022 Apr 27;23(9):4804. doi: 10.3390/ijms23094804. Int J Mol Sci. 2022. PMID: 35563194 Free PMC article.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F, Dell'Aquila M, Terracciano C, Franzese G, Gentile MT, Piluso G, Santoro C, Colavito D, Patanè A, De Blasiis P, Sampaolo S, Paladino S, Melone MAB. Napolitano F, et al. Among authors: melone mab. Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130. Genes (Basel). 2022. PMID: 35885913 Free PMC article.
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
Sampaolo S, Napolitano F, Tirozzi A, Reccia MG, Lombardi L, Farina O, Barra A, Cirillo F, Melone MAB, Gianfrancesco F, Iorio GD, Esposito T. Sampaolo S, et al. Among authors: melone mab. J Med Genet. 2017 Oct;54(10):710-720. doi: 10.1136/jmedgenet-2017-104555. Epub 2017 Jul 22. J Med Genet. 2017. PMID: 28735299
Early posterior vitreous detachment is associated with LAMA5 dominant mutation.
Napolitano F, Di Iorio V, Di Iorio G, Melone MAB, Gianfrancesco F, Simonelli F, Esposito T, Testa F, Sampaolo S. Napolitano F, et al. Among authors: melone mab. Ophthalmic Genet. 2019 Feb;40(1):39-42. doi: 10.1080/13816810.2018.1558261. Epub 2018 Dec 27. Ophthalmic Genet. 2019. PMID: 30589377
The carnitine system and cancer metabolic plasticity.
Melone MAB, Valentino A, Margarucci S, Galderisi U, Giordano A, Peluso G. Melone MAB, et al. Cell Death Dis. 2018 Feb 14;9(2):228. doi: 10.1038/s41419-018-0313-7. Cell Death Dis. 2018. PMID: 29445084 Free PMC article. Review.
102 results