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Dramatic neurological debut in a case of Köhlmeier-Degos disease.
Saracino D, D'Armiento FP, Conforti R, Napolitano M, Elefante A, Sampaolo S, Puoti G. Saracino D, et al. Among authors: sampaolo s. Neurol Sci. 2019 Oct;40(10):2201-2203. doi: 10.1007/s10072-019-03952-x. Epub 2019 Jun 10. Neurol Sci. 2019. PMID: 31183675 No abstract available.
Corrigendum to "A novel missense mutation in CAV3 gene in an Italian family with persistent hyperCKemia, myalgia and hypercholesterolemia: Double-trouble" [Clin. Neurol. Neurosurg. 191 (2020) 105687].
Bruno G, Puoti G, Oliva M, Colavito D, Allegorico L, Napolitano F, Sampaolo S. Bruno G, et al. Among authors: sampaolo s. Clin Neurol Neurosurg. 2020 Apr;191:105736. doi: 10.1016/j.clineuro.2020.105736. Epub 2020 Feb 13. Clin Neurol Neurosurg. 2020. PMID: 32063378 No abstract available.
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: sampaolo s. 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.
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: sampaolo s. 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: sampaolo s. Neuropathol Appl Neurobiol. 2021 Aug;47(5):664-678. doi: 10.1111/nan.12690. Epub 2021 Feb 1. Neuropathol Appl Neurobiol. 2021. PMID: 33393119
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: sampaolo s. Ophthalmic Genet. 2019 Feb;40(1):39-42. doi: 10.1080/13816810.2018.1558261. Epub 2018 Dec 27. Ophthalmic Genet. 2019. PMID: 30589377
82 results