1993 …2019

Research output per year

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Research Output

A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma

De Luise, M., Guarnieri, V., Ceccarelli, C., D'Agruma, L., Porcelli, A. M. & Gasparre, G., Jan 1 2019, In : Oxidative Medicine and Cellular Longevity. 2019, 1 p.

Research output: Contribution to journalArticle

  • Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

    Bidollari, E., Rotundo, G., Altieri, F., Amicucci, M., Wiquel, D., Ferrari, D., Goldoni, M., Bernardini, L., Consoli, F., De Luca, A., Fanelli, S., Lamorte, G., D'Agruma, L., Vescovi, A. L., Squitieri, F. & Rosati, J., Oct 1 2019, In : Stem Cell Research. 40, 101551.

    Research output: Contribution to journalArticle

    Open Access
  • Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: Insights into molecular properties of selected exostosin variants

    Fusco, C., Nardella, G., Fischetto, R., Copetti, M., Petracca, A., Annunziata, F., Augello, B., D'Asdia, M. C., Petrucci, S., Mattina, T., Rella, A., Cassina, M., Bengala, M., Biagini, T., Causio, F. A., Caldarini, C., Brancati, F., De Luca, A., Guarnieri, V., Micale, L. & 2 others, D'Agruma, L. & Castori, M., Jul 1 2019, In : Human Molecular Genetics. 28, 13, p. 2133-2142 10 p.

    Research output: Contribution to journalArticle

  • A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

    Nardella, G., Visci, G., Guarnieri, V., Castellana, S., Biagini, T., Bisceglia, L., Palumbo, O., Trivisano, M., Vaira, C., Scerrati, M., Debrasi, D., D'Angelo, V., Carella, M., Merla, G., Mazza, T., Castori, M., D'Agruma, L. & Fusco, C., Aug 30 2018, In : Human Mutation.

    Research output: Contribution to journalArticle