Non-redundant function of dystroglycan and β1 integrins in radial sorting of axons

Por Berti, Caterina, Bartesaghi, Luca, Ghidinelli, Monica, Zambroni, Desirée, Figlia, Gianluca, Chen, Zu-Lin, Quattrini, Angelo, Wrabetz, Lawrence, Feltri, M. Laura
Publicado em 2011

A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy

Por Hor, Hyun, Bartesaghi, Luca, Kutalik, Zoltán, Vicário, José L., de Andrés, Clara, Pfister, Corinne, Lammers, Gert J., Guex, Nicolas, Chrast, Roman, Tafti, Mehdi, Peraita-Adrados, Rosa
Publicado em 2011

A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy

Por Hor, Hyun, Bartesaghi, Luca, Kutalik, Zoltán, Vicário, José L., de Andrés, Clara, Pfister, Corinne, Lammers, Gert J., Guex, Nicolas, Chrast, Roman, Tafti, Mehdi, Peraita-Adrados, Rosa
Publicado em 2012

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Por Hor, Hyun, Francescatto, Ludmila, Bartesaghi, Luca, Ortega-Cubero, Sara, Kousi, Maria, Lorenzo-Betancor, Oswaldo, Jiménez-Jiménez, Felix J., Gironell, Alexandre, Clarimón, Jordi, Drechsel, Oliver, Agúndez, José A. G., Kenzelmann Broz, Daniela, Chiquet-Ehrismann, Ruth, Lleó, Alberto, Coria, Francisco, García-Martin, Elena, Alonso-Navarro, Hortensia, Martí, Maria J., Kulisevsky, Jaume, Hor, Charlotte N., Ossowski, Stephan, Chrast, Roman, Katsanis, Nicholas, Pastor, Pau, Estivill, Xavier
Publicado no Hum Mol Genet (2015)

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease

Por Azzedine, Hamid, Zavadakova, Petra, Planté-Bordeneuve, Violaine, Vaz Pato, Maria, Pinto, Nuno, Bartesaghi, Luca, Zenker, Jennifer, Poirot, Olivier, Bernard-Marissal, Nathalie, Arnaud Gouttenoire, Estelle, Cartoni, Romain, Title, Alexandra, Venturini, Giulia, Médard, Jean-Jacques, Makowski, Edward, Schöls, Ludger, Claeys, Kristl G., Stendel, Claudia, Roos, Andreas, Weis, Joachim, Dubourg, Odile, Leal Loureiro, José, Stevanin, Giovanni, Said, Gérard, Amato, Anthony, Baraban, Jay, LeGuern, Eric, Senderek, Jan, Rivolta, Carlo, Chrast, Roman
Publicado em 2013