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Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.
Di Stefano V, Lupica A, Alonge P, Pignolo A, Augello SM, Gentile F, Gagliardo A, Giglia F, Brinch D, Cappello M, Di Lisi D, Novo G, Borgione E, Scuderi C, Brighina F. Di Stefano V, et al. Among authors: borgione e. Eur J Neurol. 2024 Jan;31(1):e16065. doi: 10.1111/ene.16065. Epub 2023 Sep 19. Eur J Neurol. 2024. PMID: 37725003
The Y831C Mutation of the POLG Gene in Dementia.
Borgione E, Lo Giudice M, Santa Paola S, Giuliano M, Lanza G, Cantone M, Ferri R, Scuderi C. Borgione E, et al. Biomedicines. 2023 Apr 13;11(4):1172. doi: 10.3390/biomedicines11041172. Biomedicines. 2023. PMID: 37189790 Free PMC article.
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, Città S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA. Scuderi C, et al. Among authors: borgione e. Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19. Neuromuscul Disord. 2015. PMID: 25660390 Review.
30 results