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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130.
Genes (Basel). 2022.
PMID: 35885913
Free PMC article.
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: franzese g.
J Cell Physiol. 2018 Aug;233(8):5829-5837. doi: 10.1002/jcp.26365. Epub 2018 Feb 22.
J Cell Physiol. 2018.
PMID: 29215735
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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: franzese g.
Int J Mol Sci. 2021 Mar 31;22(7):3625. doi: 10.3390/ijms22073625.
Int J Mol Sci. 2021.
PMID: 33807278
Free PMC article.
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