Items where Author is "Azzedine, Hamid"

2013

Azzedine, Hamid and Zavadakova, Petra and Planté-Bordeneuve, Violaine and Vaz Pato, Maria and Pinto, Nuno and Bartesaghi, Luca and Zenker, Jennifer and Poirot, Olivier and Bernard-Marissal, Nathalie and Arnaud Gouttenoire, Estelle and Cartoni, Romain and Title, Alexandra and Venturini, Giulia and Médard, Jean-Jacques and Makowski, Edward and Schöls, Ludger and Claeys, Kristl G. and Stendel, Claudia and Roos, Andreas and Weis, Joachim and Dubourg, Odile and Leal Loureiro, José and Stevanin, Giovanni and Said, Gérard and Amato, Anthony and Baraban, Jay and LeGuern, Eric and Senderek, Jan and Rivolta, Carlo and Chrast, Roman. (2013) PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Human Molecular Genetics, 22 (20). pp. 4224-4232.

2009

Denora, Paola S. and Schlesinger, David and Casali, Carlo and Kok, Fernando and Tessa, Alessandra and Boukhris, Amir and Azzedine, Hamid and Dotti, Maria Teresa and Bruno, Claudio and Truchetto, Jeremy and Biancheri, Roberta and Fedirko, Estelle and Di Rocco, Maja and Bueno, Clarissa and Malandrini, Alessandro and Battini, Roberta and Sickl, Elisabeth and de Leva, Maria Fulvia and Boespflug-Tanguy, Odile and Silvestri, Gabriella and Simonati, Alessandro and Said, Edith and Ferbert, Andreas and Criscuolo, Chiara and Heinimann, Karl and Modoni, Anna and Weber, Peter and Palmeri, Silvia and Plasilova, Martina and Pauri, Flavia and Cassandrini, Denise and Battisti, Carla and Pini, Antonella and Tosetti, Michela and Hauser, Erwin and Masciullo, Marcella and Di Fabio, Roberto and Piccolo, Francesca and Denis, Elodie and Cioni, Giovanni and Massa, Roberto and Della Giustina, Elvio and Calabrese, Olga and Melone, Marina A. B. and De Michele, Giuseppe and Federico, Antonio and Bertini, Enrico and Durr, Alexandra and Brockmann, Knut and van der Knaap, Marjo S. and Zatz, Mayana and Filla, Alessandro and Brice, Alexis and Stevanin, Giovanni and Santorelli, Filippo M.. (2009) Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human mutation : variations, databases, and diseases, Vol. 30 , E500-519.