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Page 1
Kidney Transplant in Fabry Disease: A Revision of the Literature.
Capelli I, Aiello V, Gasperoni L, Comai G, Corradetti V, Ravaioli M, Biagini E, Graziano C, La Manna G. Capelli I, et al. Among authors: graziano c. Medicina (Kaunas). 2020 Jun 10;56(6):284. doi: 10.3390/medicina56060284. Medicina (Kaunas). 2020. PMID: 32532136 Free PMC article. Review.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Mantovani V, Bin S, Graziano C, Capelli I, Minardi R, Aiello V, Ambrosini E, Cristalli CP, Mattiaccio A, Pariali M, De Fanti S, Faletra F, Grosso E, Cantone R, Mancini E, Mencarelli F, Pasini A, Wischmeijer A, Sciascia N, Seri M, La Manna G. Mantovani V, et al. Among authors: graziano c. Front Genet. 2020 May 7;11:464. doi: 10.3389/fgene.2020.00464. eCollection 2020. Front Genet. 2020. PMID: 32457805 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: graziano c. 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.
MR Brain Screening in ADPKD Patients : To Screen or not to Screen?
Capelli I, Zoli M, Righini M, Faccioli L, Aiello V, Spinardi L, Gori D, Friso F, Rustici A, Bortolotti C, Graziano C, Mantovani V, Sciascia N, Mazzatenta D, Seri M, Pastore Trossello M, La Manna G. Capelli I, et al. Among authors: graziano c. Clin Neuroradiol. 2022 Mar;32(1):69-78. doi: 10.1007/s00062-021-01050-0. Epub 2021 Sep 29. Clin Neuroradiol. 2022. PMID: 34586427 Free PMC article.
Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
Caridi G, Lugani F, Dagnino M, Gigante M, Iolascon A, Falco M, Graziano C, Benetti E, Dugo M, Del Prete D, Granata A, Borracelli D, Moggia E, Quaglia M, Rinaldi R, Gesualdo L, Ghiggeri GM. Caridi G, et al. Among authors: graziano c. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv80-6. doi: 10.1093/ndt/gfu071. Nephrol Dial Transplant. 2014. PMID: 25165188
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S, Baiardi S, Rinaldi R, Bartoletti-Stella A, Graziano C, Piras S, Calandra-Buonaura G, D'Angelo R, Terziotti C, Lodi R, Donadio V, Pironi L, Cortelli P, Parchi P. Capellari S, et al. Among authors: graziano c. Ann Clin Transl Neurol. 2018 Apr 26;5(6):777-783. doi: 10.1002/acn3.568. eCollection 2018 Jun. Ann Clin Transl Neurol. 2018. PMID: 29928661 Free PMC article.
154 results