• 71 Citations
  • 5 h-Index
20132019
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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.

  • 15 Similar Profiles
Muscular Diseases Medicine & Life Sciences
Mutation Medicine & Life Sciences
Myosin Heavy Chains Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Muscles Medicine & Life Sciences
Myotonia Congenita Medicine & Life Sciences
Distal Myopathies Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences

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Research Output 2013 2019

  • 71 Citations
  • 5 h-Index
  • 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

Genes
Multivariate Analysis

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

Spinocerebellar Ataxias
Phenotype
Cerebellar Ataxia
Mutation
Exome
Genetic Association Studies
Cross-Sectional Studies
Dystroglycans
Mutation
Congenital Myasthenic Syndromes

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

9 Citations (Scopus)

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

Myotonia Congenita
Phenotype
Inborn Genetic Diseases
Muscle Hypotonia
Genetic Heterogeneity