Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics von Rampoldi, Luca, Caridi, Gianluca, Santon, Daniela, Boaretto, Francesca, Bernascone, Ilenia, Lamorte, Giuseppe, Tardanico, Regina, Dagnino, Monica, Colussi, Giacomo, Scolari, Francesco, Ghiggeri, Gian Marco, Amoroso, Antonio, Casari, Giorgio

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Neurologic phenotypes associated with acanthocytosis von WALKER, R. H, JUNG, H. H, DOBSON-STONE, C, RAMPOLDI, L, SANO, A, TISON, F, DANEK, A

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6C.06: GENES INVOLVED IN BLOOD PRESSURE RESPONSE TO ACUTE AND CHRONIC SALT MODIFICATIONS: IDENTIFICATION OF A NEW PATHWAY von Gatti, G, Lanzani, C, Citterio, L, Messaggio, E, Carpini, S Delli, Simonini, M, Pozzoli, S, Casamassima, N, Zagato, L, Rampoldi, L, Hamlyn, J.M, Manunta, P

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A structured interdomain linker directs self-polymerization of human uromodulin von Bokhove, Marcel, Nishimura, Kaoru, Brunati, Martina, Han, Ling, de Sanctis, Daniele, Rampoldi, Luca, Jovine, Luca

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Cryo‐EM structure of native human uromodulin, a zona pellucida module polymer von Stsiapanava, Alena, Xu, Chenrui, Brunati, Martina, Zamora‐Caballero, Sara, Schaeffer, Céline, Bokhove, Marcel, Han, Ling, Hebert, Hans, Carroni, Marta, Yasumasu, Shigeki, Rampoldi, Luca, Wu, Bin, Jovine, Luca

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Protein trafficking defects in inherited kidney diseases von Schaeffer, Céline, Creatore, Anna, Rampoldi, Luca

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Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy von Tinschert, Sigrid, Ruf, Nico, Bernascone, Ilenia, Sacherer, Kai, Lamorte, Giuseppe, Neumayer, Hans-Hellmut, Nürnberg, Peter, Luft, Friedrich C., Rampoldi, Luca

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Clinical features and molecular bases of neuroacanthocytosis von RAMPOLDI, Luca, DANEK, Adrian, MONACO, Anthony P

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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 von Olinger, E, Hofmann, P, Kidd, K, Dufour, I, Belge, H, Schaeffer, C, Kipp, A, Bonny, O, Deltas, C, Demoulin, N, Fehr, T, Fuster, D G, Gale, D P, Goffin, E, Hodanova, K, Huynh-Do, Uyen, Kistler, Andreas, Morelle, J, Papagregoriou, G, Pirson, Y, Sandford, R, Sayer, J A, Torra, R, Venzin, C, Venzin, R, Vogt, B, Živná, M, Greka, A, Dahan, K, Rampoldi, L, Devuyst, Olivier

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Uromodulin storage diseases: Clinical aspects and mechanisms von Scolari, Francesco, Caridi, Gianluca, Rampoldi, Luca, Tardanico, Regina, Izzi, Claudia, Pirulli, Doroti, Amoroso, Antonio, Casari, Giorgio, Ghiggeri, Gian Marco

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The uromodulin gene locus shows evidence of pathogen adaptation through human evolution von Ghirotto, S, Tassi, F, Barbujani, G, Pattini, L, Hayward, C, Vollenweider, P, Bochud, M, Rampoldi, L, Devuyst, O

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A comprehensive, high-resolution genomic transcript map of human skeletal muscle von Bortoluzzi, S, Rampoldi, L, Simionati, B, Zimbello, R, Barbon, A, d'Alessi, F, Tiso, N, Pallavicini, A, Toppo, S, Cannata, N, Valle, G, Lanfranchi, G, Danieli, G A

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Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage von Santambrogio, Sara, Cattaneo, Angela, Bernascone, Ilenia, Schwend, Thomas, Jovine, Luca, Bachi, Angela, Rampoldi, Luca

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Genetics of hypercalciuria and calcium nephrolithiasis: From the rare monogenic to the common polygenic forms von Gambaro, Giovanni, Vezzoli, Giuseppe, Casari, Giorgio, Rampoldi, Luca, D’Angelo, Angela, Borghi, Loris

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A conserved sorting-associated protein is mutant in chorea-acanthocytosis von Rampoldi, Luca, Dobson-Stone, Carol, Rubio, Justin P., Danek, Adrian, Chalmers, Richard M., Wood, Nicholas W., Verellen, Christine, Ferrer, Xavier, Malandrini, Alessandro, Fabrizi, Gian M., Brown, Robert, Vance, Jeffery, Pericak-Vance, Margaret, Rudolf, Gabrielle, Carrè, Sophie, Alonso, Elisa, Manfredi, Michela, Németh, Andrea H., Monaco, Anthony P.

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Neuroacanthocytosis: new developments in a neglected group of dementing disorders von Danek, Adrian, Jung, Hans H., Melone, Mariarosa A.B., Rampoldi, Luca, Broccoli, Vania, Walker, Ruth H.

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McLeod neuroacanthocytosis: Genotype and phenotype von Danek, Adrian, Rubio, Justin P., Rampoldi, Luca, Ho, Mengfatt, Dobson-Stone, Carol, Tison, François, Symmans, William A., Oechsner, Matthias, Kalckreuth, Wolfgang, Watt, Julie M., Corbett, Alastair J., Hamdalla, Hisham H. M., Marshall, Andrew G., Sutton, Ian, Dotti, Maria Teresa, Malandrini, Alessandro, Walker, Ruth H., Daniels, Geoff, Monaco, Anthony P.

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The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease von Rampoldi, L, Scolari, F, Amoroso, A, Ghiggeri, G, Devuyst, O

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Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity von Mostacciuolo, M.L, Rampoldi, L, Righetti, E, Vazza, G, Schiavon, F, Angelini, C

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Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis von Dobson-Stone, C, Danek, A, Rampoldi, L, Hardie, R J, Chalmers, R M, Wood, N W, Bohlega, S, Dotti, M T, Federico, A, Shizuka, M, Tanaka, M, Watanabe, M, Ikeda, Y, Brin, M, Goldfarb, L G, Karp, B I, Mohiddin, S, Fananapazir, L, Storch, A, Fryer, A E, Maddison, P, Sibon, I, Trevisol-Bittencourt, P C, Singer, C, Caballero, I R, Aasly, J O, Schmierer, K, Dengler, R, Hiersemenzel, L-P, Zeviani, M, Meiner, V, Lossos, A, Johnson, S, Mercado, F C, Sorrentino, G, Dupré, N, Rouleau, G A, Volkmann, J, Arpa, J, Lees, A, Geraud, G, Chouinard, S, Németh, A, Monaco, A P

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