Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected von Lombardo, F., Salzano, G., Di Bella, C., Aversa, T., Pugliatti, F., Cara, S., Valenzise, M., De Luca, F., Rigoli, L.

Volltext

TLR4 and NOD2/CARD15 Genetic Polymorphisms and their Possible Role in Gastric Carcinogenesis von RIGOLI, L, DI BELLA, C, CARUSO, R. A, FEDELE, F, PROCOPIO, V, AMORINI, M, LO GIUDICE, G, ROMEO, P, PUGLIATTI, F, FINOCCHIARO, G, LUCIANO, R

Volltext

CO21 TWO NOVEL MITOCHONDRIAL DNA CONTROL REGION MUTATIONS IN CHILDREN WITH CYCLIC VOMITING SYNDROME von Fuoti, M, Martinazzi, S, Rigoli, L, Di Bella, C, Pugliatti, F, Salpietro, C, Romano, C, Ravelli, A

Volltext

The vision-based guidance, navigation, and control system of Hera’s Milani CubeSat von Pugliatti, M., Piccolo, F., Rizza, A., Franzese, V., Topputo, F.

Volltext

Cost of disorders of the brain in Europe 2010 von Gustavsson, Anders, Svensson, Mikael, Jacobi, Frank, Allgulander, Christer, Alonso, Jordi, Beghi, Ettore, Dodel, Richard, Ekman, Mattias, Faravelli, Carlo, Fratiglioni, Laura, Gannon, Brenda, Jones, David Hilton, Jennum, Poul, Jordanova, Albena, Jönsson, Linus, Karampampa, Korinna, Knapp, Martin, Kobelt, Gisela, Kurth, Tobias, Lieb, Roselind, Linde, Mattias, Ljungcrantz, Christina, Maercker, Andreas, Melin, Beatrice, Moscarelli, Massimo, Musayev, Amir, Norwood, Fiona, Preisig, Martin, Pugliatti, Maura, Rehm, Juergen, Salvador-Carulla, Luis, Schlehofer, Brigitte, Simon, Roland, Steinhausen, Hans-Christoph, Stovner, Lars Jacob, Vallat, Jean-Michel, den Bergh, Peter Van, van Os, Jim, Vos, Pieter, Xu, Weili, Wittchen, Hans-Ulrich, Jönsson, Bengt, Olesen, Jes

Volltext

Kappa free light chains is a valid tool in the diagnostics of MS: A large multicenter study von Leurs, CE, Twaalfhoven, HAM, Lissenberg-Witte, BI, van Pesch, V, Dujmovic, I, Drulovic, J, Castellazzi, M, Bellini, T, Pugliatti, M, Kuhle, J, Villar, LM, Alvarez-Cermeño, JC, Alvarez-Lafuente, R, Hegen, H, Deisenhammer, F, Walchhofer, LM, Thouvenot, E, Comabella, M, Montalban, X, Vécsei, L, Rajda, C, Galimberti, D, Scarpini, E, Altintas, A, Rejdak, K, Frederiksen, JL, Pihl-Jensen, G, Jensen, PEH, Khalil, M, Voortman, MM, Fazekas, F, Saiz, A, La Puma, D, Vercammen, M, Vanopdenbosch, L, Uitdehaag, BMJ, Killestein, J, Bridel, C, Teunissen, C

Volltext

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 von CHIO, Adriano, BORGHERO, Giuseppe, PUGLIATTI, Maura, SOTGIU, Maria Alessandra, MURRU, Maria Rita, MARROSU, Maria Giovanna, MARROSU, Francesco, MARINOU, Kalliopi, MANDRIOLI, Jessica, SOLA, Patrizia, CAPONNETTO, Claudia, MANCARDI, Gianluigi, RESTAGNO, Gabriella, MANDICH, Paola, BELLA, Vincenzo La, SPATARO, Rossella, CONTE, Amelia, MONSURRO, Maria Rosaria, TEDESCHI, Gioacchino, PISANO, Fabrizio, BARTOLOMEI, Ilaria, SALVI, Fabrizio, PINTER, Giuseppe Lauria, MORA, Gabriele, SIMONE, Isabella, LOGROSCINO, Giancarlo, GAMBARDELLA, Antonio, QUATTRONE, Aldo, LUNETTA, Christian, VOLANTI, Paolo, ZOLLINO, Marcella, PENCO, Silvana, BATTISTINI, Stefania, RENTON, Alan E, DREPPER, Carsten, MAJOUNIE, Elisa, ABRAMZON, Yevgeniya, CONFORTI, Francesca Luisa, GIANNINI, Fabio, CORBO, Massimo, SABATELLI, Mario, TRAYNOR, Bryan J, SENDTNER, Michael, BRUNETTI, Maura, OSSOLA, Irene, CALVO, Andrea

Volltext

Predicting functional impairment trajectories in amyotrophic lateral sclerosis: a probabilistic, multifactorial model of disease progression von Tavazzi, Erica, Daberdaku, Sebastian, Zandonà, Alessandro, Vasta, Rosario, Nefussy, Beatrice, Lunetta, Christian, Mora, Gabriele, Mandrioli, Jessica, Grisan, Enrico, Tarlarini, Claudia, Calvo, Andrea, Moglia, Cristina, Drory, Vivian, Gotkine, Marc, Chiò, Adriano, Di Camillo, Barbara

Volltext

Genetic counselling in ALS: facts, uncertainties and clinical suggestions von Chiò, Adriano, Battistini, Stefania, Calvo, Andrea, Caponnetto, Claudia, Conforti, Francesca L, Corbo, Massimo, Giannini, Fabio, Mandrioli, Jessica, Mora, Gabriele, Sabatelli, Mario, Ajmone, Clara, Mastro, Enza, Pain, Debora, Mandich, Paola, Penco, Silvana, Restagno, Gabriella, Zollino, Marcella, Surbone, Antonella

Volltext

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene von Kenna, Kevin P., Chia, Ruth, Dominov, Janice A., Nalls, Mike A., van Vugt, Joke J.F.A., Simone, Isabella, Caredda, Carla, Milia, Antonio, Floris, Gianluca, Caponnetto, Claudia, Mandich, Paola, Mora, Gabriele, Sideri, Riccardo, Penco, Silvana, Mandrioli, Jessica, Trojsi, Francesca, Ticca, Anna, Ortu, Enzo, Pugliatti, Maura, Benigni, Michele, Brunetti, Maura, Marrali, Giuseppe, Riva, Nilo, Conforti, Francesca L., Messina, Sonia, D’Alfonso, Sandra, Baloh, Robert H., Penny, Michelle, Moreno, Cristiane de Araujo Martins, Chung, Wendy K., Cirulli, Elizabeth T., Harris, Tim, Krueger, Brian J., Lasseigne, Brittany N., McKenna-Yasek, Diane, Myers, Richard M., Pulst, Stefan M., Raphael, Alya R., Rouleau, Guy A., Sapp, Peter C., Waite, Lindsay L., Wang, Quanli, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Hornstein, Eran, Patsopoulos, Nikolaos A., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Baxi, Emily, LeNail, Alex, Benatar, Michael, Hussain, Sumaira, Swenson, Andrea, Jackson, Carlayne, So, Yuen, Wuu, Joanne, Silani, Vincenzo, Fogh, Isabella, Cereda, Cristina, Ceroni, Mauro, Mazzini, Letizia, Maderna, Luca, Sorarù, Gianni, Bernard, Emilien, Laaksovirta, Hannu, McKenna-Yasek, Diane, Asress, Seneshaw, Al-Sarraj, Safa, Scholz, Sonja W., MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Dunckley, Travis L., Troncoso, Juan C., Moisse, Matthieu, Drory, Vivian E., Turner, Martin R., Blair, Ian P., de Carvalho, Mamede, Hide, Winston, Glass, Jonathan, Mill, Jonathan, Newhouse, Stephen, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, van den Berg, Leonard, Williams, Kelly L., Zatz, Mayana, Rothstein, Jeffrey D., Simmons, Zachary, Van Damme, Philip, Sabatelli, Mario, Trojanowski, John Q., Brown, Robert H., Veldink, Jan H., Tienari, Pentti

Volltext

Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis von Maurer, Mathew S., Kale, Parag, Fontana, Marianna, Berk, John L., Grogan, Martha, Gustafsson, Finn, Hung, Rebecca R., Gottlieb, Robert L., Damy, Thibaud, González-Duarte, Alejandra, Sarswat, Nitasha, Sekijima, Yoshiki, Tahara, Nobuhiro, Taylor, Mark S., Kubanek, Milos, Donal, Erwan, Palecek, Tomas, Tsujita, Kenichi, Tang, W.H. Wilson, Yu, Wen-Chung, Obici, Laura, Simões, Marcus, Fernandes, Fábio, Poulsen, Steen Hvitfeldt, Diemberger, Igor, Perfetto, Federico, Solomon, Scott D., Di Carli, Marcelo, Badri, Prajakta, White, Matthew T., Chen, Jihong, Yureneva, Elena, Sweetser, Marianne T., Jay, Patrick Y., Garg, Pushkal P., Vest, John, Gillmore, Julian D.

Volltext

LOCAL EXPERIENCE ON UPDATING OF THE DOSE CLASSES FOR RADIOLOGICAL EXAMINATIONS von Lucio, F., Bosticardo, G., Pugliatti, C., Padula, N., Sardo, A.

Volltext

Riluzole and other prognostic factors in ALS: a population-based registry study in Italy von Mandrioli, Jessica, Malerba, Sara Angela, Beghi, Ettore, Fini, Nicola, Fasano, Antonio, Zucchi, Elisabetta, De Pasqua, Silvia, Guidi, Carlo, Terlizzi, Emilio, Sette, Elisabetta, Ravasio, Alessandro, Casmiro, Mario, Salvi, Fabrizio, Liguori, Rocco, Zinno, Lucia, Handouk, Yasmin, Rizzi, Romana, Borghi, Annamaria, Rinaldi, Rita, Medici, Doriana, Santangelo, Mario, Granieri, Enrico, Mussuto, Vittoria, Aiello, Marina, Ferro, Salvatore, Vinceti, Marco

Volltext

Idiopathic cervical dystonia and non-motor symptoms: a pilot case-control study on autonomic nervous system von Colucci, Fabiana, Pugliatti, Maura, Casetta, Ilaria, Capone, Jay Guido, Diozzi, Enrica, Sensi, Mariachiara, Tugnoli, Valeria

Volltext

The economic cost of brain disorders in Europe von Olesen, J., Gustavsson, A., Svensson, M., Wittchen, H.-U., Jönsson, B.

Volltext

RADIATION EXPOSURE OF A FOUR MONTHS PREGNANT PATIENT IN A FOLLOW UP CHEST CT EXAMINATION USING A LOW-DOSE SCREENING LUNG CANCER CT PROTOCOL von Bosticardo, G., Sardo, A., Pugliatti, C., Padula, N., Manzone, C., Di Guardia, G., Lucio, F.

Volltext

TOWARD VERIFICATION AND VALIDATION OF THE MILANI IMAGE PROCESSING PIPELINE IN THE HARDWARE-IN-THE-LOOP TESTBENCH TINYV3RSE von Piccolo, F., Pugliatti, M., Panicucci, P., Topputo, F.

Volltext

The Italian multiple sclerosis register von Trojano, Maria, Bergamaschi, Roberto, Amato, Maria Pia, Comi, Giancarlo, Ghezzi, Angelo, Lepore, Vito, Marrosu, Maria Giovanna, Mosconi, Paola, Patti, Francesco, Ponzio, Michela, Zaratin, Paola, Battaglia, Mario Alberto

Volltext

Decision-making in multiple sclerosis consultations in Italy: third observer and patient assessments von Pietrolongo, Erika, Giordano, Andrea, Kleinefeld, Monica, Confalonieri, Paolo, Lugaresi, Alessandra, Tortorella, Carla, Pugliatti, Maura, Radice, Davide, Goss, Claudia, Heesen, Christoph, Solari, Alessandra

Volltext

OPTIMIZATION AND CLINICAL VALIDATION OF A VIDEOFLUOROGRAPHIC PROTOCOL FOR SWALLOWING DISEASES von Pugliatti, C., Bosticardo, G., Sardo, A., Padula, N., Testa, F., Di Guardia, G., Perelli, T., Verna, V., Lucio, F.

Volltext