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Page 1
Small fiber neuropathy in female patients with fabry disease.
Liguori R, Di Stasi V, Bugiardini E, Mignani R, Burlina A, Borsini W, Baruzzi A, Montagna P, Donadio V. Liguori R, et al. Among authors: mignani r. Muscle Nerve. 2010 Mar;41(3):409-12. doi: 10.1002/mus.21606. Muscle Nerve. 2010. PMID: 20120004
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R, Incensi A, de Pasqua S, Mignani R, Fileccia E, Santostefano M, Biagini E, Rapezzi C, Palmieri S, Romani I, Borsini W, Burlina A, Bombardi R, Caprini M, Avoni P, Donadio V. Liguori R, et al. Among authors: mignani r. PLoS One. 2017 Jul 3;12(7):e0180581. doi: 10.1371/journal.pone.0180581. eCollection 2017. PLoS One. 2017. PMID: 28672034 Free PMC article.
European expert consensus statement on therapeutic goals in Fabry disease.
Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, Fomin VV, Germain DP, Hughes DA, Jovanovic A, Kantola I, Linhart A, Mignani R, Monserrat L, Namdar M, Nowak A, Oliveira JP, Ortiz A, Pieroni M, Spada M, Tylki-Szymańska A, Tøndel C, Viana-Baptista M, Weidemann F, Hilz MJ. Wanner C, et al. Among authors: mignani r. Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Mol Genet Metab. 2018. PMID: 30017653 Review.
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
Trabecular complexity as an early marker of cardiac involvement in Fabry disease.
Camporeale A, Moroni F, Lazzeroni D, Garibaldi S, Pieroni M, Pieruzzi F, Lusardi P, Spada M, Mignani R, Burlina A, Carubbi F, Econimo L, Battaglia Y, Graziani F, Pica S, Chow K, Camici PG, Lombardi M. Camporeale A, et al. Among authors: mignani r. Eur Heart J Cardiovasc Imaging. 2022 Jan 24;23(2):200-208. doi: 10.1093/ehjci/jeaa354. Eur Heart J Cardiovasc Imaging. 2022. PMID: 33486507
Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Malvagia S, Ferri L, Della Bona M, Borsini W, Cirami CL, Dervishi E, Feriozzi S, Gasperini S, Motta S, Mignani R, Trezzi B, Pieruzzi F, Morrone A, Daniotti M, Donati MA, la Marca G. Malvagia S, et al. Among authors: mignani r. Clin Chem Lab Med. 2021 Apr 30;59(9):1516-1526. doi: 10.1515/cclm-2021-0316. Print 2021 Aug 26. Clin Chem Lab Med. 2021. PMID: 33915609 Free article.
ECG-based score estimates the probability to detect Fabry Disease cardiac involvement.
Figliozzi S, Camporeale A, Boveri S, Pieruzzi F, Pieroni M, Lusardi P, Spada M, Mignani R, Burlina A, Graziani F, Pica S, Tondi L, Bernardini A, Chow K, Namdar M, Lombardi M. Figliozzi S, et al. Among authors: mignani r. Int J Cardiol. 2021 Sep 15;339:110-117. doi: 10.1016/j.ijcard.2021.07.022. Epub 2021 Jul 16. Int J Cardiol. 2021. PMID: 34274410
80 results