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Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M. Magini P, et al. Among authors: ferrari s. Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26236399 Free PMC article.
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.
Moghadam KK, Pizza F, Tonon C, Lodi R, Carelli V, Poli F, Franceschini C, Barboni P, Seri M, Ferrari S, La Morgia C, Testa C, Cornelio F, Liguori R, Winkelmann J, Lin L, Mignot E, Plazzi G. Moghadam KK, et al. Among authors: ferrari s. Sleep Med. 2014 May;15(5):582-5. doi: 10.1016/j.sleep.2013.09.028. Epub 2014 Feb 12. Sleep Med. 2014. PMID: 24709307
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G. Moghadam KK, et al. Among authors: ferrari s. Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10. Brain. 2014. PMID: 24727570 Free article.
BRCA-associated ovarian cancer: from molecular genetics to risk management.
Girolimetti G, Perrone AM, Santini D, Barbieri E, Guerra F, Ferrari S, Zamagni C, De Iaco P, Gasparre G, Turchetti D. Girolimetti G, et al. Among authors: ferrari s. Biomed Res Int. 2014;2014:787143. doi: 10.1155/2014/787143. Epub 2014 Jul 22. Biomed Res Int. 2014. PMID: 25136623 Free PMC article. Review.
2,566 results