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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
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients.
Esposito T, Schettino C, Polverino P, Allocca S, Adelfi L, D'Amico A, Capaldo G, Varriale B, Di Salle A, Peluso G, Sorrentino G, Lus G, Sampaolo S, Di Iorio G, Melone MAB. Esposito T, et al. Among authors: melone mab. Nutrients. 2017 Jul 21;9(7):783. doi: 10.3390/nu9070783. Nutrients. 2017. PMID: 28754004 Free PMC article.
Successful long-term therapy with flecainide in a family with paramyotonia congenita.
Terracciano C, Farina O, Esposito T, Lombardi L, Napolitano F, Blasiis P, Ciccone G, Todisco V, Tuccillo F, Bernardini S, Di Iorio G, Melone MAB, Sampaolo S. Terracciano C, et al. Among authors: melone mab. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1232-1234. doi: 10.1136/jnnp-2017-317615. Epub 2018 Feb 27. J Neurol Neurosurg Psychiatry. 2018. PMID: 29487168 No abstract available.
Neurofibromatous neuropathy: An ultrastructural study.
Terracciano C, Pachatz C, Rastelli E, Pastore FS, Melone MAB, Massa R. Terracciano C, et al. Among authors: melone mab. Ultrastruct Pathol. 2018 May-Jun;42(3):312-316. doi: 10.1080/01913123.2018.1454562. Epub 2018 Mar 27. Ultrastruct Pathol. 2018. PMID: 29583067
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
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
102 results