20132019

Research output per year

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

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Research Output

  • 15 Article
  • 1 Conference contribution

A novel approach to gene analysis: Gene panels and cluster definition to assist genotyping patients with congenital myopathies

Calderisi, M., Ceppa, I., Cassandrini, D., Trovato, R., Bertocci, G., Tonacci, A., Astrea, G., Conte, R. & Santorelli, F. M., Jan 1 2019, HEALTHINF 2019 - 12th International Conference on Health Informatics, Proceedings; Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019. Moucek, R., Fred, A. & Gamboa, H. (eds.). SciTePress, p. 345-352 8 p. (HEALTHINF 2019 - 12th International Conference on Health Informatics, Proceedings; Part of 12th International Joint Conference on Biomedical Engineering Systems and Technologies, BIOSTEC 2019).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

  • The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

    Lieto, M., Riso, V., Galatolo, D., De Michele, G., Rossi, S., Barghigiani, M., Cocozza, S., Pontillo, G., Trovato, R., Saccà, F., Salvatore, E., Tessa, A., Filla, A., Santorelli, F. M., De Michele, G. & Silvestri, G., Jan 1 2019, (Accepted/In press) In : European Journal of Neurology.

    Research output: Contribution to journalArticle

  • Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

    Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I. & 16 others, Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M. & Network, I. CMD., 2018, In : Orphanet Journal of Rare Diseases. 13, 1

    Research output: Contribution to journalArticle

    Congenital myopathies: Clinical phenotypes and new diagnostic tools

    Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, E. S., Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, F., Grandis, M., Maggi, L., Magri, F. & 25 others, Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Mercuri, E., Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, M., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, M., Siciliano, G., Simonati, A., Tonin, P. & Toscano, A., Nov 15 2017, In : Italian Journal of Pediatrics. 43, 1, 101.

    Research output: Contribution to journalArticle