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Potential resistance to SARS-CoV-2 infection in lysosomal storage disorders.
Pieroni M, Pieruzzi F, Mignani R, Graziani F, Olivotto I, Riccio E, Ciabatti M, Limongelli G, Manna R, Bolognese L, Pisani A. Pieroni M, et al. Among authors: mignani r. Clin Kidney J. 2021 Feb 18;14(5):1488-1490. doi: 10.1093/ckj/sfab045. eCollection 2021 May. Clin Kidney J. 2021. PMID: 34221376 Free PMC article. No abstract available.
Early markers of Fabry disease revealed by proteomics.
Matafora V, Cuccurullo M, Beneduci A, Petrazzuolo O, Simeone A, Anastasio P, Mignani R, Feriozzi S, Pisani A, Comotti C, Bachi A, Capasso G. Matafora V, et al. Among authors: mignani r. Mol Biosyst. 2015 Jun;11(6):1543-51. doi: 10.1039/c4mb00707g. Mol Biosyst. 2015. PMID: 25666440
Parapelvic cysts, a distinguishing feature of renal Fabry disease.
Pisani A, Petruzzelli Annicchiarico L, Pellegrino A, Bruzzese D, Feriozzi S, Imbriaco M, Tedeschi E, Cocozza S, De Rosa D, Mignani R, Veroux M, Battaglia Y, Concolino D, Sestito S, Pieruzzi F, Caroti L, Manna R, Zizzo C, Santangelo M, Sabbatini M, Riccio E. Pisani A, et al. Among authors: mignani r. Nephrol Dial Transplant. 2018 Feb 1;33(2):318-323. doi: 10.1093/ndt/gfx009. Nephrol Dial Transplant. 2018. PMID: 28371803
Redefining the Pulvinar Sign in Fabry Disease.
Cocozza S, Russo C, Pisani A, Olivo G, Riccio E, Cervo A, Pontillo G, Feriozzi S, Veroux M, Battaglia Y, Concolino D, Pieruzzi F, Mignani R, Borrelli P, Imbriaco M, Brunetti A, Tedeschi E, Palma G. Cocozza S, et al. Among authors: mignani r. AJNR Am J Neuroradiol. 2017 Dec;38(12):2264-2269. doi: 10.3174/ajnr.A5420. Epub 2017 Oct 19. AJNR Am J Neuroradiol. 2017. PMID: 29051208 Free PMC article.
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L, Malesci D, Fioravanti A, Bagordo G, Filippini A, Ficcadenti A, Manna R, Antuzzi D, Verrecchia E, Donati I, Mignani R, Cavicchi C, Guerrini R, Morrone A. Ferri L, et al. Among authors: mignani r. Clin Chim Acta. 2018 Jun;481:25-33. doi: 10.1016/j.cca.2018.02.021. Epub 2018 Feb 21. Clin Chim Acta. 2018. PMID: 29476735 Free article.
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G, Zizzo C, Cammarata G, Burlina A, Burlina A, Polo G, Scalia S, Oliveri R, Sciarrino S, Francofonte D, Alessandro R, Pisani A, Palladino G, Napoletano R, Tenuta M, Masarone D, Limongelli G, Riccio E, Frustaci A, Chimenti C, Ferri C, Pieruzzi F, Pieroni M, Spada M, Castana C, Caserta M, Monte I, Rodolico MS, Feriozzi S, Battaglia Y, Amico L, Losi MA, Autore C, Lombardi M, Zoccali C, Testa A, Postorino M, Mignani R, Zachara E, Giordano A, Colomba P. Duro G, et al. Among authors: mignani r. Int J Mol Sci. 2018 Nov 23;19(12):3726. doi: 10.3390/ijms19123726. Int J Mol Sci. 2018. PMID: 30477121 Free PMC article.
Predictors of Clinical Evolution in Prehypertrophic Fabry Disease.
Camporeale A, Pieroni M, Pieruzzi F, Lusardi P, Pica S, Spada M, Mignani R, Burlina A, Bandera F, Guazzi M, Graziani F, Crea F, Greiser A, Boveri S, Ambrogi F, Lombardi M. Camporeale A, et al. Among authors: mignani r. Circ Cardiovasc Imaging. 2019 Apr;12(4):e008424. doi: 10.1161/CIRCIMAGING.118.008424. Circ Cardiovasc Imaging. 2019. PMID: 30943767
78 results