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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.
Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinné S, Froese A, Nikolaev VO, Grunert C, Müller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A. Schindler RF, et al. Among authors: di raimo fr. J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7. J Clin Invest. 2016. PMID: 26642364 Free PMC article.
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Passarelli C, Selvatici R, Carrieri A, Di Raimo FR, Falzarano MS, Fortunato F, Rossi R, Straub V, Bushby K, Reza M, Zharaieva I, D'Amico A, Bertini E, Merlini L, Sabatelli P, Borgiani P, Novelli G, Messina S, Pane M, Mercuri E, Claustres M, Tuffery-Giraud S, Aartsma-Rus A, Spitali P, T'Hoen PAC, Lochmüller H, Strandberg K, Al-Khalili C, Kotelnikova E, Lebowitz M, Schwartz E, Muntoni F, Scapoli C, Ferlini A. Passarelli C, et al. Among authors: di raimo fr. Front Genet. 2020 Jul 3;11:605. doi: 10.3389/fgene.2020.00605. eCollection 2020. Front Genet. 2020. PMID: 32719714 Free PMC article.
Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys.
Torrioli M, Vernacotola S, Setini C, Bevilacqua F, Martinelli D, Snape M, Hutchison JA, Di Raimo FR, Tabolacci E, Neri G. Torrioli M, et al. Among authors: di raimo fr. Am J Med Genet A. 2010 Jun;152A(6):1420-7. doi: 10.1002/ajmg.a.33484. Am J Med Genet A. 2010. PMID: 20503316 Clinical Trial.
Long time no see: the Type and Contre-type concept.
Neri G, Di Raimo FR. Neri G, et al. Among authors: di raimo fr. Eur J Hum Genet. 2010 Feb;18(2):135-6. doi: 10.1038/ejhg.2009.171. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844257 Free PMC article. No abstract available.
Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Di Pietro ML, Zaçe D, Orfino A, Di Raimo FR, Poscia A, de Matteis E, Turchetti D, Godino L, Bertonazzi B, Franiuk M, Bruzzone C, Varesco L, Lucci-Cordisco E, Genuardi M. Di Pietro ML, et al. Among authors: di raimo fr. Eur J Hum Genet. 2021 Feb;29(2):250-261. doi: 10.1038/s41431-020-00723-7. Epub 2020 Sep 14. Eur J Hum Genet. 2021. PMID: 32929237 Free PMC article.
Correction: Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach.
Di Pietro ML, Zaçe D, Orfino A, Di Raimo FR, Poscia A, de Matteis E, Turchetti D, Godino L, Bertonazzi B, Franiuk M, Bruzzone C, Varesco L, Lucci-Cordisco E, Genuardi M. Di Pietro ML, et al. Among authors: di raimo fr. Eur J Hum Genet. 2021 Feb;29(2):362. doi: 10.1038/s41431-020-00733-5. Eur J Hum Genet. 2021. PMID: 32968214 Free PMC article. No abstract available.