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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: vitello ga. 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.
Carrier screening for spinal muscular atrophy in Italian population.
Calì F, Ruggeri G, Chiavetta V, Scuderi C, Bianca S, Barone C, Ragalmuto A, Schinocca P, Vitello GA, Romano V, Musumeci S. Calì F, et al. Among authors: vitello ga. J Genet. 2014 Apr;93(1):179-81. doi: 10.1007/s12041-014-0323-x. J Genet. 2014. PMID: 24840836 Free article. No abstract available.
PHF21A Related Disorder: Description of a New Case.
Butera A, Nicotera AG, Di Rosa G, Musumeci SA, Vitello GA, Musumeci A, Vinci M, Gloria A, Federico C, Saccone S, Calì F. Butera A, et al. Among authors: vitello ga. Int J Mol Sci. 2022 Dec 17;23(24):16130. doi: 10.3390/ijms232416130. Int J Mol Sci. 2022. PMID: 36555772 Free PMC article.
16 results