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Page 1
Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy.
Vitale G, Ditaranto R, Graziani F, Tanini I, Camporeale A, Lillo R, Rubino M, Panaioli E, Di Nicola F, Ferrara V, Zanoni R, Caponetti AG, Pasquale F, Graziosi M, Berardini A, Ziacchi M, Biffi M, Santostefano M, Liguori R, Taglieri N, Nardi E, Linhart A, Olivotto I, Rapezzi C, Biagini E. Vitale G, et al. Among authors: santostefano m. Heart. 2022 Jan;108(1):54-60. doi: 10.1136/heartjnl-2020-318271. Epub 2021 Feb 9. Heart. 2022. PMID: 33563631
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: santostefano m. PLoS One. 2017 Jul 3;12(7):e0180581. doi: 10.1371/journal.pone.0180581. eCollection 2017. PLoS One. 2017. PMID: 28672034 Free PMC article.
Circulating miR-184 is a potential predictive biomarker of cardiac damage in Anderson-Fabry disease.
Salamon I, Biagini E, Kunderfranco P, Roncarati R, Ferracin M, Taglieri N, Nardi E, Laprovitera N, Tomasi L, Santostefano M, Ditaranto R, Vitale G, Cavarretta E, Pisani A, Riccio E, Aiello V, Capelli I, La Manna G, Galiè N, Spinelli L, Condorelli G. Salamon I, et al. Among authors: santostefano m. Cell Death Dis. 2021 Dec 11;12(12):1150. doi: 10.1038/s41419-021-04438-5. Cell Death Dis. 2021. PMID: 34897278 Free PMC article.
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
Santostefano M, Cappuccilli M, Gibertoni D, Fabbrizio B, Malvi D, Demetri M, Capelli I, Tringali E, Papa V, Biagini E, Cenacchi G, Galdi A, Donadio V, Liguori R, Zoli G, La Manna G, Pasquinelli G. Santostefano M, et al. Am J Kidney Dis. 2023 Nov;82(5):581-596.e0. doi: 10.1053/j.ajkd.2023.03.015. Epub 2023 Jun 9. Am J Kidney Dis. 2023. PMID: 37301502
Diagnostic accuracy of anti-phospholipase A2 receptor (PLA2R) antibodies in idiopathic membranous nephropathy: an Italian experience.
Porcelli B, Guarnieri A, Ferretti F, Garosi G, Terzuoli L, Cinci F, Tabucchi A, Tampoia M, Abbracciavento L, Villani C, Deleonardi G, Grondona AG, Mazzolini M, La Manna G, Santostefano M, Infantino M, Manfredi M, Spatoliatore G, Rosati A, Somma C, Bizzaro N. Porcelli B, et al. Among authors: santostefano m. J Nephrol. 2021 Apr;34(2):573-579. doi: 10.1007/s40620-020-00888-w. Epub 2020 Oct 29. J Nephrol. 2021. PMID: 33123964 Free PMC article.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Živná M, Kidd K, Zaidan M, Vyleťal P, Barešová V, Hodaňová K, Sovová J, Hartmannová H, Votruba M, Trešlová H, Jedličková I, Sikora J, Hůlková H, Robins V, Hnízda A, Živný J, Papagregoriou G, Mesnard L, Beck BB, Wenzel A, Tory K, Häeffner K, Wolf MTF, Bleyer ME, Sayer JA, Ong ACM, Balogh L, Jakubowska A, Łaszkiewicz A, Clissold R, Shaw-Smith C, Munshi R, Haws RM, Izzi C, Capelli I, Santostefano M, Graziano C, Scolari F, Sussman A, Trachtman H, Decramer S, Matignon M, Grimbert P, Shoemaker LR, Stavrou C, Abdelwahed M, Belghith N, Sinclair M, Claes K, Kopel T, Moe S, Deltas C, Knebelmann B, Rampoldi L, Kmoch S, Bleyer AJ. Živná M, et al. Among authors: santostefano m. Kidney Int. 2020 Dec;98(6):1589-1604. doi: 10.1016/j.kint.2020.06.041. Epub 2020 Aug 1. Kidney Int. 2020. PMID: 32750457 Free PMC article.
Renal involvement in systemic amyloidosis--an Italian retrospective study on epidemiological and clinical data at diagnosis.
Bergesio F, Ciciani AM, Santostefano M, Brugnano R, Manganaro M, Palladini G, Di Palma AM, Gallo M, Tosi PL, Salvadori M; Immunopathology Group, Italian Society of Nephrology. Bergesio F, et al. Among authors: santostefano m. Nephrol Dial Transplant. 2007 Jun;22(6):1608-18. doi: 10.1093/ndt/gfm041. Epub 2007 Mar 29. Nephrol Dial Transplant. 2007. PMID: 17395661
Renal involvement in systemic amyloidosis: an Italian collaborative study on survival and renal outcome.
Bergesio F, Ciciani AM, Manganaro M, Palladini G, Santostefano M, Brugnano R, Di Palma AM, Gallo M, Rosati A, Tosi PL, Salvadori M; Immunopathology Group of the Italian Society of Nephrology. Bergesio F, et al. Among authors: santostefano m. Nephrol Dial Transplant. 2008 Mar;23(3):941-51. doi: 10.1093/ndt/gfm684. Epub 2007 Oct 19. Nephrol Dial Transplant. 2008. PMID: 17951308
Rituximab versus steroids and cyclophosphamide for the treatment of primary membranous nephropathy: protocol of a pilot randomised controlled trial.
Scolari F, Dallera N, Gesualdo L, Santoro D, Pani A, Santostefano M, Feriozzi S, Mani LY, Boscutti G, Messa P, Magistroni R, Quaglia M, Ponticelli C, Ravani P. Scolari F, et al. Among authors: santostefano m. BMJ Open. 2019 Dec 4;9(12):e029232. doi: 10.1136/bmjopen-2019-029232. BMJ Open. 2019. PMID: 31806605 Free PMC article.
Rituximab or Cyclophosphamide in the Treatment of Membranous Nephropathy: The RI-CYCLO Randomized Trial.
Scolari F, Delbarba E, Santoro D, Gesualdo L, Pani A, Dallera N, Mani LY, Santostefano M, Feriozzi S, Quaglia M, Boscutti G, Ferrantelli A, Marcantoni C, Passerini P, Magistroni R, Alberici F, Ghiggeri GM, Ponticelli C, Ravani P; RI-CYCLO Investigators. Scolari F, et al. Among authors: santostefano m. J Am Soc Nephrol. 2021 Apr;32(4):972-982. doi: 10.1681/ASN.2020071091. Epub 2021 Mar 1. J Am Soc Nephrol. 2021. PMID: 33649098 Free PMC article.
61 results