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Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
Santoro M, Perna A, La Rosa P, Petrillo S, Piemonte F, Rossi S, Riso V, Nicoletti TF, Modoni A, Pomponi MG, Chiurazzi P, Silvestri G. Santoro M, et al. Among authors: piemonte f. Neurogenetics. 2020 Oct;21(4):279-287. doi: 10.1007/s10048-020-00620-7. Epub 2020 Jul 7. Neurogenetics. 2020. PMID: 32638185
Antioxidant enzymes in blood of patients with Friedreich's ataxia.
Tozzi G, Nuccetelli M, Lo Bello M, Bernardini S, Bellincampi L, Ballerini S, Gaeta LM, Casali C, Pastore A, Federici G, Bertini E, Piemonte F. Tozzi G, et al. Among authors: piemonte f. Arch Dis Child. 2002 May;86(5):376-9. doi: 10.1136/adc.86.5.376. Arch Dis Child. 2002. PMID: 11970939 Free PMC article.
Pediatric reference intervals for muscle coenzyme Q(10).
Pastore A, Di Giovamberardino G, Petrillo S, Boenzi S, Bertini E, Dionisi-Vici C, Piemonte F. Pastore A, et al. Among authors: piemonte f. Biomarkers. 2012 Dec;17(8):764-6. doi: 10.3109/1354750X.2012.727029. Epub 2012 Oct 1. Biomarkers. 2012. PMID: 23020092
Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E. Petrillo S, et al. Among authors: piemonte f. Mol Genet Metab. 2013 Aug;109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22. Mol Genet Metab. 2013. PMID: 23768953 Free PMC article.
148 results