20092020

Research output per year

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Fingerprint Dive into the research topics where Leonardo Caporali is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

La Morgia, C., Maresca, A., Amore, G., Gramegna, L. L., Carbonelli, M., Scimonelli, E., Danese, A., Patergnani, S., Caporali, L., Tagliavini, F., Del Dotto, V., Capristo, M., Sadun, F., Barboni, P., Savini, G., Evangelisti, S., Bianchini, C., Valentino, M. L., Liguori, R., Tonon, C. & 4 others, Giorgi, C., Pinton, P., Lodi, R. & Carelli, V., Dec 1 2020, In : Scientific Reports. 10, 1, 4785.

Research output: Contribution to journalArticle

Open Access
  • 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

    Novel mutations in DNA2 associated with myopathy and mtDNA instability

    Ronchi, D., Liu, C., Caporali, L., Piga, D., Li, H., Tagliavini, F., Valentino, M. L., Ferrò, M. T., Bini, P., Zheng, L., Carelli, V., Shen, B. & Comi, G. P., Sep 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899 7 p.

    Research output: Contribution to journalArticle

  • Novel mutations in DNA2 associated with myopathy and mtDNA instability

    Ronchi, D., Liu, C., Caporali, L., Piga, D., Li, H., Tagliavini, F., Valentino, M. L., Ferrò, M. T., Bini, P., Zheng, L., Carelli, V., Shen, B. & Comi, G. P., 2019, In : Annals of Clinical and Translational Neurology. 6, 9, p. 1893-1899

    Research output: Contribution to journalArticle

    Open Access
  • SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

    Bisulli, F., Licchetta, L., Baldassari, S., Muccioli, L., Marconi, C., Cantalupo, G., Myers, C., Menghi, V., Minardi, R., Caporali, L., Marini, C., Guerrini, R., Mefford, H. C., Tinuper, P. & Pippucci, T., Apr 2019, In : Epileptic Disorders. 21, 2, p. 185-191 7 p.

    Research output: Contribution to journalArticle