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Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy 1-gen-2004 Tinschert, S; Ruf, N; Bernascone, I; Sacherer, K; Lamorte, G; Neumayer, Hh; Nurnberg, P; Luft, Fc; Rampoldi, L
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 1-gen-2004 Gambaro, G; Vezzoli, G; Casari, G; Rampoldi, L; D’Angelo, A; Borghi, L
The Spectrum of Mutations and Possible Function of the CHAC Gene 1-gen-2005 Dobson-Stone, C; Rampoldi, L; Monaco, Ap
Genetic basis and animal models in neuroacanthocytosis research 1-gen-2005 Rampoldi, L; Broccoli, V
Phenotype and genotype in Chorea-Acanthocytosis 1-gen-2005 Danek, A; Dobson-Stone, C; Rampoldi, L; Monaco, Ap
Neuroacanthocytosis: new developments in a neglected group of dementing disorders 1-gen-2005 Danek, A; Jung, Hh; Melone, Mab; Rampoldi, L; Broccoli, V; Walker, Rh
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
Defective intracellular trafficking of uromodulin mutant isoforms 1-gen-2006 Bernascone, I; Vavassori, S; Di Pentima, A; Santambrogio, S; Lamorte, G; Amoroso, A; Scolari, F; Ghiggeri, Gm; Casari, GIORGIO NEVIO; Polishchuk, R; Rampoldi, L.
Developments in neuroacanthocytosis: Expanding the spectrum of choreatic syndromes 1-gen-2006 Walker, Rh; Danek, A; Dobson-Stone, C; Guerrini, R; Jung, Hh; Lafontaine, Al; Rampoldi, L; Tison, F; Andermann, E
Neurologic phenotypes associated with acanthocytosis 1-gen-2007 Walker, Rh; Jung, Hh; Dobson-Stone, C; Rampoldi, L; Sano, A; Tison, F; Danek, A
Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage 1-gen-2008 Santambrogio, S; Cattaneo, A; Bernascone, I; Schwend, T; Jovine, L; Bachi, A; Rampoldi, L
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
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.
EUNEFRON, the European Network for the Study of Orphan Nephropathies 1-gen-2009 Devuyst, O; Meij, I; Jeunemaitre, X; Ronco, P; Antignac, C; Christensen, Ei; Knoers, Nv; Levtchenko, En; Deen, Pm; Muller, D; Wagner, Ca; Rampoldi, L; van't Hoff, Wg
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 1-gen-2009 Manfredi, I; Zani, Ad; Rampoldi, L; Pegorini, S; Bernascone, I; Moretti, M; Gotti, C; Croci, L; Consalez, GIAN GIACOMO; FERINI STRAMBI, Luigi; Sala, M; Pattini, L; Casari, GIORGIO NEVIO
Immature Renal Structures Associated With a Novel UMOD Sequence Variant 1-gen-2009 Benetti, E; Caridi, G; Della Vella, M; Rampoldi, L; Ghiggeri, Gm; Artifoni, L; Murer, 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
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression 1-gen-2010 Zaucke, F; Boehnlein, Jm; Steffens, S; Polishchuk, Rs; Rampoldi, L; Fischer, A; Pasch, A; Boehm, Cwa; Baasner, A; Attanasio, M; Hoppe, B; Hopfer, H; Beck, Bb; Sayer, Ja; Hildebrandt, F; Wolf, Mtf
The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease 1-gen-2011 Rampoldi, L; Scolari, F; Amoroso, A; Ghiggeri, G; Devuyst, O
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
Mostrati risultati da 21 a 40 di 85
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