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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: scuderi c. Eur J Neurol. 2024 Jan;31(1):e16065. doi: 10.1111/ene.16065. Epub 2023 Sep 19. Eur J Neurol. 2024. PMID: 37725003 Free PMC article.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Among authors: scuderi c. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
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. Among authors: scuderi c. Biomedicines. 2023 Apr 13;11(4):1172. doi: 10.3390/biomedicines11041172. Biomedicines. 2023. PMID: 37189790 Free PMC article.
194 results