RAMPOLDI, LUCA

RAMPOLDI, LUCA  

Facoltà di Medicina e Chirurgia  

Mostra records
Risultati 1 - 20 di 85 (tempo di esecuzione: 0.034 secondi).
Titolo Data di pubblicazione Autore(i) File
A comprehensive, high-resolution genomic transcript map of human skeletal muscle RID G-8211-2011 RID E-7037-2010 RID E-2182-2011 1-gen-1998 Bortoluzzi, S; Rampoldi, L; Simionati, B; Zimbello, R; Barbon, A; D'Alessi, F; Tiso, N; Pallavicini, A; Toppo, S; Cannata, N; Valle, G; Lanfranchi, C; Danieli, Ga
A conserved sorting-associated protein is mutant in chorea-acanthocytosis RID C-2505-2009 RID A-4495-2010 1-gen-2001 Rampoldi, L; Dobson-Stone, C; Rubio, Jp; Danek, A; Chalmers, Rm; Wood, Nw; Verellen, C; Ferrer, X; Malandrini, A; Fabrizi, Gm; Brown, R; Vance, J; Pericak-Vance, M; Rudolf, G; Carre, S; Alonso, E; Manfredi, M; Nemeth, Ah; Monaco, Ap
A novel truncated form of eNOS associates with altered vascular function 1-gen-2014 Galluccio, E; Cassina, L; Russo, I; Gelmini, F; Setola, E; Rampoldi, L; Citterio, L; Rossodivita, A; Kamami, M; Colombo, A; Alfieri, Ottavio; Carini, M; Bosi, Emanuele; Trovati, M; Piatti, P; Monti, Ld; Casari, GIORGIO NEVIO
A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing 1-gen-2014 Glaudemans, B; Terryn, S; Golz, N; Brunati, M; Cattaneo, A; Bachi, A; Al-Qusairi, L; Ziegler, U; Staub, O; Rampoldi, L; Devuyst, O
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 1-gen-2003 Casari, G; De Fusco, M; Aridon, P; Silvestri, L; Atorino, L; Rampoldi, L; Ballabio, A; Marconi, R
A structured interdomain linker directs self-polymerization of human uromodulin 1-gen-2016 Bokhove, M; Nishimura, K; Brunati, M; Han, L; de Sanctis, D; Rampoldi, L; Jovine, L
A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure 1-gen-2010 Bernascone, I; Janas, S; Ikehata, M; Trudu, M; Corbelli, A; Schaeffer, C; Rastaldi, Mp; Devuyst, O; Rampoldi, L
Activation of the Bumetanide-sensitive Na(+), K(+),2Cl(-) Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner 1-gen-2011 Mutig, K; Kahl, T; Saritas, T; Godes, M; Persson, P; Bates, J; Raffi, H; Rampoldi, L; Uchida, S; Hille, C; Dosche, C; Kumar, S; Castaneda-Bueno, M; Gamba, G; Bachmann, S
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease 1-gen-2023 Schiano, G.; Lake, J.; Mariniello, M.; Schaeffer, C.; Harvent, M.; Rampoldi, L.; Olinger, E.; Devuyst, O.
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 1-gen-2003 Rampoldi, L; Caridi, G; Santon, D; Boaretto, F; Bernascone, I; Lamorte, G; Tardanico, R; Dagnino, M; Colussi, G; Scolari, F; Ghiggeri, Gm; Amoroso, A; Casari, GIORGIO NEVIO
Allelism of medullary cystic disease, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease caused by delayed uromodulin trafficking to plasma membrane and endoplasmic reticulum retention 1-gen-2006 Rampoldi, L; Lamorte, G; Bernascone, I; Caridi, G; Santon, D; Boaretto, F; Tardanico, R; Dagnino, M; Colussi, G; Scolari, F; Ghiggeri, Gm; Amoroso, A; Casari, GIORGIO NEVIO; Mazza, Davide
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease 1-gen-2022 Olinger, Eric; Schaeffer, Céline; Kidd, Kendrah; Elhassan, Elhussein A E; Cheng, Yurong; Dufour, Inès; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G; Kistler, Andreas D; Wilson, Ian J; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J; Köttgen, Anna; Conlon, Peter J; Wiesener, Michael; Sayer, John A; Rampoldi, Luca; Devuyst, Olivier
An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes 1-gen-2020 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
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 1-gen-2009 Schaeffer, C; Santambrogio, S; Perucca, S; Casari, GIORGIO NEVIO; Rampoldi, L.
Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing 1-gen-2012 Kottgen, A; Yang, Q; Shimmin, Lc; Tin, A; Schaeffer, C; Coresh, J; Liu, X; Rampoldi, L; Hwang, Sj; Boerwinkle, E; Hixson, Je; Kao, Whl; Fox, Cs
Autosomal dominant tubulointerstitial kidney disease 1-gen-2019 Devuyst, O; Olinger, E; Weber, S; Eckardt, Ku; Kmoch, S; Rampoldi, L; Bleyer, Aj
Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein 1-gen-2019 Schaeffer, C; Izzi, C; Vettori, A; Pasqualetto, E; Cittaro, D; Lazarevic, D; Caridi, G; Gnutti, B; Mazza, C; Jovine, L; Scolari, F; Rampoldi, L
Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD 1-gen-2022 Econimo, Laura; Schaeffer, Celine; Zeni, Letizia; Cortinovis, Roberta; Alberici, Federico; Rampoldi, Luca; Scolari, Francesco; Izzi, Claudia
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report 1-gen-2015 Eckardt, Ku; Alper, Sl; Antignac, C; Bleyer, Aj; Chauveau, D; Dahan, K; Deltas, C; Hosking, A; Kmoch, S; Rampoldi, L; Wiesener, M; Wolf, Mt; Devuyst, O
Cellular trafficking and phosphorylation of the bumetanide-sensitive Na+, K+, 2Cl--cotransporter NKCC2 are facilitated by Tamm-Horsfall protein 1-gen-2009 Saritas, T; Mutig, K; Godes, M; Kahl, T; Persson, P; Boehlick, A; Bates, J; Rampoldi, L; Uchida, S; Takahashi, N; Kumar, S; Bachmann, S