De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females von Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M

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The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules von Kunde, S.A., Musante, L., Grimme, A., Fischer, U., Müller, E., Wanker, E.E., Kalscheuer, V.M.

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In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells von Ito, H, Shiwaku, H, Yoshida, C, Homma, H, Luo, H, Chen, X, Fujita, K, Musante, L, Fischer, U, Frints, S G M, Romano, C, Ikeuchi, Y, Shimamura, T, Imoto, S, Miyano, S, Muramatsu, S-i, Kawauchi, T, Hoshino, M, Sudol, M, Arumughan, A, Wanker, E E, Rich, T, Schwartz, C, Matsuzaki, F, Bonni, A, Kalscheuer, V M, Okazawa, H

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Mechanical behaviour of MgO–C refractory bricks evaluated by stress–strain curves von Musante, L., Martorello, L.F., Galliano, P.G., Cavalieri, A.L., Tomba Martinez, A.G.

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Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis von CARIDI, Gianluca, BERTELLI, Roberta, SERI, Marco, GINEVRI, Fabrizio, PERFUMO, Francesco, GHIGGERI, Gian Marco, CARREA, Alba, DI DUCA, Marco, CATARSI, Paolo, ARTERO, Mary, CARRARO, Michele, ZENNARO, Cristina, CANDIANO, Giovanni, MUSANTE, Luca

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823 Characterizing UVB-irradiated keratinocyte-derived extracellular vesicles in murine dermis von Ricco, C., Eldaboush, A., Musante, L., Baniel, A., Liu, M., Werth, V.

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Blue silver: A very sensitive colloidal Coomassie G-250 staining for proteome analysis von Candiano, Giovanni, Bruschi, Maurizio, Musante, Luca, Santucci, Laura, Ghiggeri, Gian Marco, Carnemolla, Barbara, Orecchia, Paola, Zardi, Luciano, Righetti, Pier Giorgio

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Germline KRAS mutations cause Noonan syndrome von Böll, Silke, Kratz, Christian P, Schubbert, Suzanne, Zhang, Kam Y J, Shannon, Kevin, West, Brian, Zenker, Martin, Bollag, Gideon, Musante, Luciana, Rauch, Anita, Klein, Cornelia, van der Burgt, Ineke, Nguyen, Hoa, Wehner, Lars-Erik, Rowe, Sara L, Sistermans, Erik, Niemeyer, Charlotte M, Kalscheuer, Vera

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females von Radio, Francesca Clementina, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Zhou, Dihong, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Weiss, Karin, Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Holder, Jimmy Lloyd, Tartaglia, Marco

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Circulating anti‐actin and anti‐ATP synthase antibodies identify a sub‐set of patients with idiopathic nephrotic syndrome von Musante, L., Candiano, G., Bruschi, M., Santucci, L., Carnemolla, B., Orecchia, P., Giampuzzi, M., Zennaro, C., Sanna‐Cherchi, S., Carraro, M., Oleggini, R., Camussi, G., Perfumo, F., Ghiggeri, G. M.

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Apolipoproteins prevent glomerular albumin permeability induced in vitro by serum from patients with focal segmental glomerulosclerosis von Candiano, Giovanni, Musante, Luca, Carraro, Michele, Faccini, Luigi, Campanacci, Luciano, Zennaro, Cristina, Artero, Mary, Ginevri, Fabrizio, Perfumo, Francesco, Gusmano, Rosanna, Ghiggeri, Gian Marco

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Glomerular clusterin is associated with PKC-α/β regulation and good outcome of membranous glomerulonephritis in humans von Rastaldi, M.P., Candiano, G., Musante, L., Bruschi, M., Armelloni, S., Rimoldi, L., Tardanico, R., Cherchi, S. Sanna, Ferrario, F., Montinaro, V., Haupt, R., Parodi, S., Carnevali, M.L., Allegri, L., Camussi, G., Gesualdo, L., Scolari, F., Ghiggeri, G.M.

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Assessing the Effect of Changing the Average Hematocrit in Red Blood Cell (RBC) Units on the Post- Procedure Hematocrits of Patients Undergoing Erythrocytapheresis von Musante, K L, Roome, L, Yurtsever, N, Rinder, H, Tormey, C, Lee, E S

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Characterization of a murine gene homologous to the bovine CaCC chloride channel von Romio, L., Musante, L., Cinti, R., Seri, M., Moran, O., Zegarra-Moran, O., Galietta, L.J.V.

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Comparative study of thermal stability of healthy and focal segmental glomerulosclerosis plasma albumin von BRUSCHI, M, MUSANTE, L, GHIGGERI, G. M, RIAIDI, G, CANDIANO, G

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The effect of proteinase inhibitors on glomerular albumin permeability induced in vitro by serum from patients with idiopathic focal segmental glomerulosclerosis von Carraro, Michele, Zennaro, Cristina, Artero, Mary, Candiano, Giovanni, Ghiggeri, Gian Marco, Musante, Luca, Sirch, Cristina, Bruschi, Maurizio, Faccini, Luigi

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O08 - A survey of current trends in urinary extracellular vesicle research von Erdbrügger, U., Blijdorp, C., Llorente, A., Martens-Uzunova, E.S., Musante, L., Burger, D.

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A survey of current trends in urinary extracellular vesicle research von Erdbrügger, U., Blijdorp, C., Llorente, A., Martens-Uzunova, E.S., Musante, L., Burger, D.

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Characterization of MgO-based tundish working lining materials, microstructure and properties von Musmeci, Maximiliano, Rendtorff, Nicolás M., Musante, Leonardo, Martorello, Leandro, Galliano, Pablo, Aglietti, Esteban F.

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Nephrotic urine prevents increased rat glomerular albumin permeability induced by serum from the same patient with idiopathic nephrotic syndrome von Carraro, Michele, Zennaro, Cristina, Candiano, Giovanni, Musante, Luca, Bruschi, Maurizio, Ghiggeri, Gian Marco, Artero, Mary, Faccini, Luigi

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