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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C, Zanni G, Baumgartner B, Borgatti R, Brockmann K, Camacho A, Cantalupo G, Haeusler M, Hikel C, Klein A, Mandrile G, Mercuri E, Rating D, Romaniello R, Santorelli FM, Schimmel M, Spaccini L, Teber S, von Moers A, Wente S, Ziegler A, Zonta A, Bertini E, Boltshauser E, Valente EM. Micalizzi A, et al. Among authors: cantalupo g. Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2. Eur J Hum Genet. 2016. PMID: 26932191 Free PMC article.
Let the EEG speak my language: Italian translation of Standardized Computer-based Organized Reporting of EEG (SCORE).
Nucera B, Rinaldi F, Dono F, Evangelista G, Consoli S, Proietti J, Lanzone J, Lo Barco T, Tappatà M, Cossu A, Narducci F, Zaboli A, Cantalupo G, Brigo F. Nucera B, et al. Among authors: cantalupo g. Epileptic Disord. 2023 Dec;25(6):919-922. doi: 10.1002/epd2.20151. Epub 2023 Aug 26. Epileptic Disord. 2023. PMID: 37597157 No abstract available.
Early-onset head titubation in a child with Poretti-Boltshauser syndrome.
Masson R, Piretti E, Pellegrin S, Gusson E, Poretti A, Valente EM, Cantalupo G. Masson R, et al. Among authors: cantalupo g. Neurology. 2017 Apr 11;88(15):1478-1479. doi: 10.1212/WNL.0000000000003823. Epub 2017 Mar 10. Neurology. 2017. PMID: 28283601 No abstract available.
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Palombo F, et al. Among authors: cantalupo g. Hum Genet. 2020 Nov;139(11):1429-1441. doi: 10.1007/s00439-020-02187-7. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488467 Free article.
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
Licchetta L, Pippucci T, Bisulli F, Cantalupo G, Magini P, Alvisi L, Baldassari S, Martinelli P, Naldi I, Vanni N, Liguori R, Seri M, Tinuper P. Licchetta L, et al. Among authors: cantalupo g. Epilepsia. 2013 Jul;54(7):1298-306. doi: 10.1111/epi.12216. Epub 2013 May 11. Epilepsia. 2013. PMID: 23663087 Free article.
125 results