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Competing to raise awareness of rare diseases.
Polizzi A, Gentile AE, Taruscio D. Polizzi A, et al. Among authors: taruscio d. Lancet Neurol. 2019 Aug;18(8):721-722. doi: 10.1016/S1474-4422(18)30437-X. Epub 2018 Nov 15. Lancet Neurol. 2019. PMID: 30447970 No abstract available.
EUROPLAN: a project to support the development of national plans on rare diseases in Europe.
Taruscio D, Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Huizer J, Fregonese L, Stefanov R, Bottarelli V, Weinman A, Le Cam Y, Gavhed D, Mincarone P, Bushby K, Frazzica RG, Donati C, Vittozzi L, Jessop E. Taruscio D, et al. Public Health Genomics. 2013;16(6):278-87. doi: 10.1159/000355932. Epub 2014 Feb 3. Public Health Genomics. 2013. PMID: 24503588
The Italian National Centre for Rare Diseases: where research and public health translate into action.
Taruscio D, Agresta L, Amato A, Bernardo G, Bernardo L, Braguti F, Carbone P, Carta C, Ceccarini M, Censi F, Coppola S, Crialese P, De Santis M, Diemoz S, Donati C, Gainotti S, Ferrari G, Floridia G, Frank C, Frazzica RG, Gentile AE, Granata O, Kodra Y, Latrofa M, Laricchiuta P, Magrelli A, Morciano C, Polizzi A, Razeto S, Salvatore M, Sanseverino A, Savini D, Torreri P, Tosto F, Villani F, Vincenti G, Vittozzi L. Taruscio D, et al. Blood Transfus. 2014 Apr;12 Suppl 3(Suppl 3):s591-605. doi: 10.2450/2014.0040-14s. Blood Transfus. 2014. PMID: 24922300 Free PMC article. Review. No abstract available.
Rare diseases research and practice.
Polizzi A, Balsamo A, Bal MO, Taruscio D. Polizzi A, et al. Among authors: taruscio d. Endocr Dev. 2014;27:234-56. doi: 10.1159/000363670. Epub 2014 Sep 9. Endocr Dev. 2014. PMID: 25247660 Review.
Sustainable public health systems for rare diseases.
Ferrelli RM, Gentile AE, De Santis M, Taruscio D. Ferrelli RM, et al. Among authors: taruscio d. Ann Ist Super Sanita. 2017 Apr-Jun;53(2):170-175. doi: 10.4415/ANN_17_02_16. Ann Ist Super Sanita. 2017. PMID: 28617266 Free article. Review.
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Salvatore M, Polizzi A, De Stefano MC, Floridia G, Baldovino S, Roccatello D, Sciascia S, Menegatti E, Remuzzi G, Daina E, Iatropoulos P, Bembi B, Da Riol RM, Ferlini A, Neri M, Novelli G, Sangiuolo F, Brancati F, Taruscio D. Salvatore M, et al. Among authors: taruscio d. Ital J Pediatr. 2020 Sep 14;46(1):130. doi: 10.1186/s13052-020-00883-8. Ital J Pediatr. 2020. PMID: 32928283 Free PMC article.
Neurocutaneous syndromes in art and antiquities.
Ruggieri M, Gentile AE, Ferrara V, Papi M, Praticò AD, Mudry A, Taruscio D, Micali G, Polizzi A. Ruggieri M, et al. Among authors: taruscio d. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):224-234. doi: 10.1002/ajmg.c.31917. Epub 2021 May 20. Am J Med Genet C Semin Med Genet. 2021. PMID: 34013593 Free PMC article. Review.
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Fortugno P, Monetta R, Belli M, Botti E, Angelucci F, Palmerini MG, Nottola SA, De Luca C, Ceccarini M, Salvatore M, Bianchi L, Macioce P, Teson M, Ricci F; Italian Undiagnosed Diseases Network; Macchiarelli G, Didona B, Costanzo A, Castiglia D, Brancati F. Fortugno P, et al. Hum Mol Genet. 2022 Aug 17;31(15):2535-2547. doi: 10.1093/hmg/ddac046. Hum Mol Genet. 2022. PMID: 35220430
229 results