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Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A, Ferrara U, De Luca A, Pivonello C, Lombardo L, Piscitelli A, Tortora C, Pinna V, Daniele P, Pivonello R, Russo MG, Limongelli G, Colao A, Tartaglia M, Strisciuglio P, Melis D. Assunto A, et al. Orphanet J Rare Dis. 2019 Nov 15;14(1):261. doi: 10.1186/s13023-019-1223-1. Orphanet J Rare Dis. 2019. PMID: 31730495 Free PMC article.
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
D'Amico A, Rosano C, Pannone L, Pinna V, Assunto A, Motta M, Ugga L, Daniele P, Mandile R, Mariniello L, Siano MA, Santoro C, Piluso G, Martinelli S, Strisciuglio P, De Luca A, Tartaglia M, Melis D. D'Amico A, et al. Among authors: assunto a. Clin Genet. 2021 Nov;100(5):563-572. doi: 10.1111/cge.14040. Epub 2021 Aug 17. Clin Genet. 2021. PMID: 34346503
RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
Di Candia F, Marchetti V, Cirillo F, Di Minno A, Rosano C, Pagano S, Siano MA, Falco M, Assunto A, Boccia G, Magliacane G, Pinna V, De Luca A, Tartaglia M, Di Minno G, Strisciuglio P, Melis D. Di Candia F, et al. Among authors: assunto a. Orphanet J Rare Dis. 2021 Dec 2;16(1):499. doi: 10.1186/s13023-021-02122-7. Orphanet J Rare Dis. 2021. PMID: 34857025 Free PMC article.
The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb.
Resaz R, Raggi F, Segalerba D, Lavarello C, Gamberucci A, Bosco MC, Astigiano S, Assunto A, Melis D, D'Acierno M, Veiga-da-Cunha M, Petretto A, Marcolongo P, Trepiccione F, Eva A. Resaz R, et al. Among authors: assunto a. Mol Genet Metab Rep. 2021 Oct 20;29:100813. doi: 10.1016/j.ymgmr.2021.100813. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712576 Free PMC article.