20162020

Research output per year

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Research Output

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Maresca, A., Caporali, L., Palombo, F., Tagliavini, F., Baugh, E. H., MacAo, B., Szilagyi, Z., Peron, C., Gustafson, M. A., Khan, K., La Morgia, C., Barboni, P., Carbonelli, M., Valentino, M. L., Liguori, R. & 27 others, Shashi, V., Sullivan, J., Nagaraj, S., El-Dairi, M., Iannaccone, A., Cutcutache, I., Bertini, E., Carrozzo, R., Emma, F., Diomedi-Camassei, F., Zanna, C., Armstrong, M., Page, M., Stong, N., Boesch, S., Kopajtich, R., Wortmann, S., Sperl, W., Davis, E. E., Copeland, W. C., Seri, M., Falkenberg, M., Prokisch, H., Katsanis, N., Tiranti, V., Pippucci, T. & Carelli, V., 2020, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

Research output: Contribution to journalArticle

  • Mitochondrial Mass Assessment in a Selected Cell Line under Different Metabolic Conditions

    Costanzini, A., Sgarbi, G., Maresca, A., Del Dotto, V., Solaini, G. & Baracca, A., Nov 18 2019, In : Cells. 8, 11, p. E1454

    Research output: Contribution to journalArticle

  • SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

    Del Dotto, V., Ullah, F., Di Meo, I., Magini, P., Gusic, M., Maresca, A., Caporali, L., Palombo, F., Tagliavini, F., Baugh, E. H., Macao, B., Szilagyi, Z., Peron, C., Gustafson, M. A., Khan, K., La Morgia, C., Barboni, P., Carbonelli, M., Valentino, M. L., Liguori, R. & 27 others, Shashi, V., Sullivan, J., Nagaraj, S., El-Dairi, M., Iannaccone, A., Cutcutache, I., Bertini, E., Carrozzo, R., Emma, F., Diomedi-Camassei, F., Zanna, C., Armstrong, M., Page, M., Stong, N., Boesch, S., Kopajtich, R., Wortmann, S., Sperl, W., Davis, E. E., Copeland, W. C., Seri, M., Falkenberg, M., Prokisch, H., Katsanis, N., Tiranti, V., Pippucci, T. & Carelli, V., 2019, In : Journal of Clinical Investigation. 130, 1, p. 108-125 18 p.

    Research output: Contribution to journalArticle

  • Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

    Del Dotto, V., Fogazza, M., Musiani, F., Maresca, A., Aleo, S. J., Caporali, L., La Morgia, C., Nolli, C., Lodi, T., Goffrini, P., Chan, D., Carelli, V., Rugolo, M., Baruffini, E. & Zanna, C., Oct 1 2018, In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1864, 10, p. 3496-3514 19 p.

    Research output: Contribution to journalArticle