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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
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
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.
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.
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.
80 results