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2014 1
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Page 1
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: lombardi l. Neuropathol Appl Neurobiol. 2021 Aug;47(5):664-678. doi: 10.1111/nan.12690. Epub 2021 Feb 1. Neuropathol Appl Neurobiol. 2021. PMID: 33393119
Three-dimensional muon imaging of cavities inside the Temperino mine (Italy).
Borselli D, Beni T, Bonechi L, Bongi M, Brocchini D, Casagli N, Ciaranfi R, Cimmino L, Ciulli V, D'Alessandro R, Dini A, Frosin C, Gigli G, Gonzi S, Guideri S, Lombardi L, Nocentini M, Saracino G. Borselli D, et al. Among authors: lombardi l. Sci Rep. 2022 Dec 25;12(1):22329. doi: 10.1038/s41598-022-26393-7. Sci Rep. 2022. PMID: 36567372 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: lombardi l. 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.
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: lombardi l. J Cell Physiol. 2018 Aug;233(8):5829-5837. doi: 10.1002/jcp.26365. Epub 2018 Feb 22. J Cell Physiol. 2018. PMID: 29215735
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: lombardi l. 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
12 results