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Items: 1 to 50 of 58

1.

TRPP2 dysfunction decreases ATP-evoked calcium, induces cell aggregation and stimulates proliferation in T lymphocytes.

Magistroni R, Mangolini A, Guzzo S, Testa F, Rapanà MR, Mignani R, Russo G, di Virgilio F, Aguiari G.

BMC Nephrol. 2019 Sep 13;20(1):355. doi: 10.1186/s12882-019-1540-6.

2.

[The Fabry nephropathy: new insight in diagnosis, monitoring and treatment].

Mignani R.

G Ital Nefrol. 2019 Jul 24;36(4). pii: 2019-vol4. Italian.

PMID:
31373466
3.

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.

Circ Cardiovasc Imaging. 2019 Apr;12(4):e008424. doi: 10.1161/CIRCIMAGING.118.008424.

PMID:
30943767
4.

New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases.

Mignani R, Pieroni M, Pisani A, Spada M, Battaglia Y, Verrecchia E, Mangeri M, Feriozzi S, Tanini I, De Danieli G, Pieruzzi F.

Clin Kidney J. 2018 Nov 14;12(1):65-70. doi: 10.1093/ckj/sfy108. eCollection 2019 Feb.

5.

The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts.

Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M.

Mol Genet Metab Rep. 2019 Feb 6;19:100454. doi: 10.1016/j.ymgmr.2019.100454. eCollection 2019 Jun. Review.

6.

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.

Int J Mol Sci. 2018 Nov 23;19(12). pii: E3726. doi: 10.3390/ijms19123726.

7.

Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report.

Battaglia Y, Scalia S, Rinaldi R, Storari A, Mignani R, Russo D, Duro G.

Clin Nephrol. 2019 Feb;91(2):126-128. doi: 10.5414/CN109501. No abstract available.

PMID:
30474596
8.

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.

Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12. Review.

PMID:
30017653
9.

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.

Clin Chim Acta. 2018 Jun;481:25-33. doi: 10.1016/j.cca.2018.02.021. Epub 2018 Feb 21.

10.

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.

AJNR Am J Neuroradiol. 2017 Dec;38(12):2264-2269. doi: 10.3174/ajnr.A5420. Epub 2017 Oct 19.

11.

Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.

Mignani R, Moschella M, Cenacchi G, Donati I, Flachi M, Grimaldi D, Cerretani D, Giovanni P, Montevecchi M, Rigotti A, Ravasio A.

Mol Genet Genomic Med. 2017 May 8;5(4):438-442. doi: 10.1002/mgg3.292. eCollection 2017 Jul.

12.

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.

PLoS One. 2017 Jul 3;12(7):e0180581. doi: 10.1371/journal.pone.0180581. eCollection 2017.

13.

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.

Nephrol Dial Transplant. 2018 Feb 1;33(2):318-323. doi: 10.1093/ndt/gfx009.

PMID:
28371803
14.

Comparison of Total Kidney Volume Quantification Methods in Autosomal Dominant Polycystic Disease for a Comprehensive Disease Assessment.

Turco D, Busutti M, Mignani R, Magistroni R, Corsi C.

Am J Nephrol. 2017;45(5):373-379. doi: 10.1159/000466709. Epub 2017 Mar 18.

PMID:
28315882
15.

FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

Mignani R, Pieruzzi F, Berri F, Burlina A, Chinea B, Gallieni M, Pieroni M, Salviati A, Spada M.

Clin Kidney J. 2016 Oct;9(5):739-47. doi: 10.1093/ckj/sfw082. Epub 2016 Sep 9.

16.

Geometry-independent assessment of renal volume in polycystic kidney disease from magnetic resonance imaging.

Turco D, Severi S, Mignani R, Magistroni R, Corsi C.

Conf Proc IEEE Eng Med Biol Soc. 2015;2015:3081-4. doi: 10.1109/EMBC.2015.7319043.

PMID:
26736943
17.

Reliability of Total Renal Volume Computation in Polycystic Kidney Disease From Magnetic Resonance Imaging.

Turco D, Severi S, Mignani R, Aiello V, Magistroni R, Corsi C.

Acad Radiol. 2015 Nov;22(11):1376-84. doi: 10.1016/j.acra.2015.06.018. Epub 2015 Aug 12.

PMID:
26276168
18.

[The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].

Mignani R, Gallieni M, Feriozzi S, Pisani A, Marziliano N, Morrone A.

G Ital Nefrol. 2015 Jul-Aug;32(4). pii: gin/32.4.11. Italian.

PMID:
26252265
19.

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.

Mol Biosyst. 2015 Jun;11(6):1543-51. doi: 10.1039/c4mb00707g.

PMID:
25666440
20.

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, Fischman C, Snyder HJ, Appel G, Izzi C, Viola BF, Dallera N, Del Vecchio L, Barlassina C, Salvi E, Bertinetto FE, Amoroso A, Savoldi S, Rocchietti M, Amore A, Peruzzi L, Coppo R, Salvadori M, Ravani P, Magistroni R, Ghiggeri GM, Caridi G, Bodria M, Lugani F, Allegri L, Delsante M, Maiorana M, Magnano A, Frasca G, Boer E, Boscutti G, Ponticelli C, Mignani R, Marcantoni C, Di Landro D, Santoro D, Pani A, Polci R, Feriozzi S, Chicca S, Galliani M, Gigante M, Gesualdo L, Zamboli P, Battaglia GG, Garozzo M, Maixnerová D, Tesar V, Eitner F, Rauen T, Floege J, Kovacs T, Nagy J, Mucha K, Pączek L, Zaniew M, Mizerska-Wasiak M, Roszkowska-Blaim M, Pawlaczyk K, Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG.

Nat Genet. 2014 Nov;46(11):1187-96. doi: 10.1038/ng.3118. Epub 2014 Oct 12.

21.

Comment on the paper: 'novel approach to estimate kidney and cyst volumes using mid-slice magnetic resonance images in polycystic kidney disease'.

Corsi C, Mignani R, Turco D, Magistroni R, Severi S.

Am J Nephrol. 2014;39(2):163-4. doi: 10.1159/000358911. Epub 2014 Feb 11. No abstract available.

22.

Detection of the characteristic pion-decay signature in supernova remnants.

Ackermann M, Ajello M, Allafort A, Baldini L, Ballet J, Barbiellini G, Baring MG, Bastieri D, Bechtol K, Bellazzini R, Blandford RD, Bloom ED, Bonamente E, Borgland AW, Bottacini E, Brandt TJ, Bregeon J, Brigida M, Bruel P, Buehler R, Busetto G, Buson S, Caliandro GA, Cameron RA, Caraveo PA, Casandjian JM, Cecchi C, Celik O, Charles E, Chaty S, Chaves RC, Chekhtman A, Cheung CC, Chiang J, Chiaro G, Cillis AN, Ciprini S, Claus R, Cohen-Tanugi J, Cominsky LR, Conrad J, Corbel S, Cutini S, D'Ammando F, de Angelis A, de Palma F, Dermer CD, do Couto e Silva E, Drell PS, Drlica-Wagner A, Falletti L, Favuzzi C, Ferrara EC, Franckowiak A, Fukazawa Y, Funk S, Fusco P, Gargano F, Germani S, Giglietto N, Giommi P, Giordano F, Giroletti M, Glanzman T, Godfrey G, Grenier IA, Grondin MH, Grove JE, Guiriec S, Hadasch D, Hanabata Y, Harding AK, Hayashida M, Hayashi K, Hays E, Hewitt JW, Hill AB, Hughes RE, Jackson MS, Jogler T, Jóhannesson G, Johnson AS, Kamae T, Kataoka J, Katsuta J, Knödlseder J, Kuss M, Lande J, Larsson S, Latronico L, Lemoine-Goumard M, Longo F, Loparco F, Lovellette MN, Lubrano P, Madejski GM, Massaro F, Mayer M, Mazziotta MN, McEnery JE, Mehault J, Michelson PF, Mignani RP, Mitthumsiri W, Mizuno T, Moiseev AA, Monzani ME, Morselli A, Moskalenko IV, Murgia S, Nakamori T, Nemmen R, Nuss E, Ohno M, Ohsugi T, Omodei N, Orienti M, Orlando E, Ormes JF, Paneque D, Perkins JS, Pesce-Rollins M, Piron F, Pivato G, Rainò S, Rando R, Razzano M, Razzaque S, Reimer A, Reimer O, Ritz S, Romoli C, Sánchez-Conde M, Schulz A, Sgrò C, Simeon PE, Siskind EJ, Smith DA, Spandre G, Spinelli P, Stecker FW, Strong AW, Suson DJ, Tajima H, Takahashi H, Takahashi T, Tanaka T, Thayer JG, Thayer JB, Thompson DJ, Thorsett SE, Tibaldo L, Tibolla O, Tinivella M, Troja E, Uchiyama Y, Usher TL, Vandenbroucke J, Vasileiou V, Vianello G, Vitale V, Waite AP, Werner M, Winer BL, Wood KS, Wood M, Yamazaki R, Yang Z, Zimmer S.

Science. 2013 Feb 15;339(6121):807-11. doi: 10.1126/science.1231160.

23.

Glomerular membranous nephropathy and Werner syndrome: a case report.

Granata A, Floccari F, Mignani R, Gallieni M.

J Am Geriatr Soc. 2011 Sep;59(9):1749-50. doi: 10.1111/j.1532-5415.2011.03578.x. No abstract available.

PMID:
22136536
24.

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.

Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, Maródi L, Mignani R, Vujkovac B, Beitner-Johnson D, Lemay R, Cole JA, Svarstad E, Waldek S, Germain DP, Wanner C; Fabry Registry.

Nephrol Dial Transplant. 2012 Mar;27(3):1042-9. doi: 10.1093/ndt/gfr420. Epub 2011 Jul 29.

25.

Genome-wide association study identifies susceptibility loci for IgA nephropathy.

Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, Wang W, Wang Z, Yasuno K, Gunel M, Mane S, Umlauf S, Tikhonova I, Beerman I, Savoldi S, Magistroni R, Ghiggeri GM, Bodria M, Lugani F, Ravani P, Ponticelli C, Allegri L, Boscutti G, Frasca G, Amore A, Peruzzi L, Coppo R, Izzi C, Viola BF, Prati E, Salvadori M, Mignani R, Gesualdo L, Bertinetto F, Mesiano P, Amoroso A, Scolari F, Chen N, Zhang H, Lifton RP.

Nat Genet. 2011 Mar 13;43(4):321-7. doi: 10.1038/ng.787.

26.

Assessment of kidney volume in polycystic kidney disease using magnetic resonance imaging without contrast medium.

Mignani R, Corsi C, De Marco M, Caiani EG, Santucci G, Cavagna E, Severi S, Cagnoli L.

Am J Nephrol. 2011;33(2):176-84. doi: 10.1159/000324039. Epub 2011 Feb 10.

PMID:
21311183
27.

Fabry disease: perspectives of urinary proteomics.

Cuccurullo M, Beneduci A, Anand S, Mignani R, Cianciaruso B, Bachi A, Capasso G.

J Nephrol. 2010 Nov-Dec;23 Suppl 16:S199-212.

PMID:
21170881
28.

Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry.

Wanner C, Oliveira JP, Ortiz A, Mauer M, Germain DP, Linthorst GE, Serra AL, Maródi L, Mignani R, Cianciaruso B, Vujkovac B, Lemay R, Beitner-Johnson D, Waldek S, Warnock DG.

Clin J Am Soc Nephrol. 2010 Dec;5(12):2220-8. doi: 10.2215/CJN.04340510. Epub 2010 Sep 2.

29.

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.

Muscle Nerve. 2010 Mar;41(3):409-12. doi: 10.1002/mus.21606.

PMID:
20120004
30.

Dialysis and transplantation in Fabry disease: indications for enzyme replacement therapy.

Mignani R, Feriozzi S, Schaefer RM, Breunig F, Oliveira JP, Ruggenenti P, Sunder-Plassmann G.

Clin J Am Soc Nephrol. 2010 Feb;5(2):379-85. doi: 10.2215/CJN.05570809. Epub 2010 Jan 7. Review.

31.

Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female.

Mignani R, Preda P, Granata A, Maldini L, De Giovanni P, Montevecchi M, Rigotti A, Cagnoli L.

NDT Plus. 2009 Dec;2(6):455-7. doi: 10.1093/ndtplus/sfp104. Epub 2009 Aug 11.

32.

End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.

Ortiz A, Cianciaruso B, Cizmarik M, Germain DP, Mignani R, Oliveira JP, Villalobos J, Vujkovac B, Waldek S, Wanner C, Warnock DG.

Nephrol Dial Transplant. 2010 Mar;25(3):769-75. doi: 10.1093/ndt/gfp554. Epub 2009 Oct 21.

PMID:
19846394
33.

[Renal involvement in Fabry's disease: diagnosis, follow-up and enzyme replacement therapy].

Mignani R, Feriozzi S, Carraro G, Martinelli F, Cianciaruso B.

G Ital Nefrol. 2009 Sep-Oct;26(5):577-84. Review. Italian.

PMID:
19802803
34.

Persistent left superior vena cava: what the interventional nephrologist needs to know.

Granata A, Andrulli S, Fiorini F, Logias F, Figuera M, Mignani R, Basile A, Fiore CE.

J Vasc Access. 2009 Jul-Sep;10(3):207-11. Review.

PMID:
19670176
35.

Is standard GLA gene mutation analysis definitive for the diagnosis of Fabry disease?

Mignani R, Morrone A.

Kidney Int. 2009 May;75(10):1115-6; author reply 1115. doi: 10.1038/ki.2009.28. No abstract available.

36.
37.

Subfoveal choroidal neovascularization in a patient with Fabry's disease.

Sodi A, Bini A, Mignani R, Minuti B, Menchini U.

Int Ophthalmol. 2009 Oct;29(5):435-7. doi: 10.1007/s10792-008-9252-0. Epub 2008 Sep 11.

PMID:
18784903
38.

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.

Filoni C, Caciotti A, Carraresi L, Donati MA, Mignani R, Parini R, Filocamo M, Soliani F, Simi L, Guerrini R, Zammarchi E, Morrone A.

Eur J Hum Genet. 2008 Nov;16(11):1311-7. doi: 10.1038/ejhg.2008.109. Epub 2008 Jun 18.

39.

Nail-patella syndrome and renal involvement. Description of three cases and literature review.

Granata A, Nori G, Ravazzolo R, Marini M, Castellino S, Sicurezza E, Fiore CE, Mignani R.

Clin Nephrol. 2008 May;69(5):377-82. Review.

PMID:
18538102
40.

Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study.

Buechner S, Moretti M, Burlina AP, Cei G, Manara R, Ricci R, Mignani R, Parini R, Di Vito R, Giordano GP, Simonelli P, Siciliano G, Borsini W.

J Neurol Neurosurg Psychiatry. 2008 Nov;79(11):1249-54. doi: 10.1136/jnnp.2008.143693. Epub 2008 Jun 5.

PMID:
18535022
41.

Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy.

Mignani R, Feriozzi S, Pisani A, Cioni A, Comotti C, Cossu M, Foschi A, Giudicissi A, Gotti E, Lozupone VA, Marchini F, Martinelli F, Bianco F, Panichi V, Procaccini DA, Ragazzoni E, Serra A, Soliani F, Spinelli L, Torti G, Veroux M, Cianciaruso B, Cagnoli L.

Nephrol Dial Transplant. 2008 May;23(5):1628-35. Epub 2007 Dec 5.

PMID:
18057066
42.

Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease.

Sessa A, Meroni M, Battini G, Righetti M, Mignani R.

Semin Nephrol. 2004 Sep;24(5):532-6. Review.

PMID:
15490423
43.

Enzyme replacement therapy in Fabry's disease: recent advances and clinical applications.

Mignani R, Cagnoli L.

J Nephrol. 2004 May-Jun;17(3):354-63. Review.

PMID:
15365954
44.

Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study.

Mignani R, Panichi V, Giudicissi A, Taccola D, Boscaro F, Feletti C, Moneti G, Cagnoli L.

Kidney Int. 2004 Apr;65(4):1381-5.

45.

Geminga's tails: a pulsar bow shock probing the interstellar medium.

Caraveo PA, Bignami GF, DeLuca A, Mereghetti S, Pellizzoni A, Mignani R, Tur A, Becker W.

Science. 2003 Sep 5;301(5638):1345-7. Epub 2003 Jul 24.

46.

Long-term survival of patients with renal transplantation in Fabry's disease.

Mignani R, Gerra D, Maldini L, Bignardi L, Casanova S, Cambi V, Cagnoli L.

Contrib Nephrol. 2001;(136):229-33. No abstract available.

PMID:
11688385
47.

A high-velocity black hole on a Galactic-halo orbit in the solar neighbourhood.

Mirabel IF, Dhawan V, Mignani RP, Rodrigues I, Guglielmetti F.

Nature. 2001 Sep 13;413(6852):139-41.

PMID:
11557973
48.

Possibility of searching for heavy neutrinos at accelerators.

Fargion D, Yu Khlopov M, Konoplich RV, Mignani R.

Phys Rev D Part Fields. 1996 Oct 1;54(7):4684-4686. No abstract available.

PMID:
10021151
49.

Ethylene-oxide and steam-sterilised polysulfone membrane in dialysis patients with eosinophilia.

Santoro A, Ferrari G, Francioso A, Zucchelli P, Duranti E, Sasdelli M, Rosati A, Salvadori M, Sanna GM, Briganti M, Fusaroli M, Lindner G, Stefani A, Borgatti P, Badiali F, Mignani R, Cagnoli L, Aucella F, Stallone C, Massazza M, Borghi M, Gualandris L, Modoni S, Grandone E, Orlandini G, et al.

Int J Artif Organs. 1996 Jun;19(6):329-35.

PMID:
8814494
50.

Bounds on very heavy relic neutrinos by their annihilation in the Galactic halo.

Fargion D, Khlopov MY, Konoplich RV, Mignani R.

Phys Rev D Part Fields. 1995 Aug 15;52(4):1828-1836. No abstract available.

PMID:
10019409

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