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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: terracciano c. Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130. Genes (Basel). 2022. PMID: 35885913 Free PMC article.
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Napolitano F, Bruno G, Terracciano C, Franzese G, Palomba NP, Scotto di Carlo F, Signoriello E, De Blasiis P, Navarro S, Gialluisi A, Melone MAB, Sampaolo S, Esposito T. Napolitano F, et al. Among authors: terracciano c. Int J Mol Sci. 2021 Mar 31;22(7):3625. doi: 10.3390/ijms22073625. Int J Mol Sci. 2021. PMID: 33807278 Free PMC article.
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Napolitano F, Terracciano C, Bruno G, De Blasiis P, Lombardi L, Gialluisi A, Gianfrancesco F, De Giovanni D, Tummolo A, Di Iorio G, Limongelli G, Esposito T, Melone MAB, Sampaolo S. Napolitano F, et al. Among authors: terracciano c. Neuropathol Appl Neurobiol. 2021 Aug;47(5):664-678. doi: 10.1111/nan.12690. Epub 2021 Feb 1. Neuropathol Appl Neurobiol. 2021. PMID: 33393119
Neurofibromatous neuropathy: An ultrastructural study.
Terracciano C, Pachatz C, Rastelli E, Pastore FS, Melone MAB, Massa R. Terracciano C, et al. Ultrastruct Pathol. 2018 May-Jun;42(3):312-316. doi: 10.1080/01913123.2018.1454562. Epub 2018 Mar 27. Ultrastruct Pathol. 2018. PMID: 29583067
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
Pascarella A, Terracciano C, Farina O, Lombardi L, Esposito T, Napolitano F, Franzese G, Panella G, Tuccillo F, la Marca G, Bernardini S, Boffo S, Giordano A, Di Iorio G, Melone MAB, Sampaolo S. Pascarella A, et al. Among authors: terracciano c. J Cell Physiol. 2018 Aug;233(8):5829-5837. doi: 10.1002/jcp.26365. Epub 2018 Feb 22. J Cell Physiol. 2018. PMID: 29215735
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. 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.
210 results