A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis

le Caroppo, Francesca, Cama, Elena, Salmaso, Roberto, Bertolin, Cinzia, Salviati, Leonardo, Belloni Fortina, Anna
Foilsithe in Clin Case Rep (2020)

Brain MRI shows white matter sparing in Kennedy's disease and slow‐progressing lower motor neuron disease

le Spinelli, Edoardo G., Agosta, Federica, Ferraro, Pilar M., Querin, Giorgia, Riva, Nilo, Bertolin, Cinzia, Martinelli, Ilaria, Lunetta, Christian, Fontana, Andrea, Sorarù, Gianni, Filippi, Massimo
Foilsithe in Hum Brain Mapp (2019)

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

le Semplicini, Claudio, Vissing, John, Dahlqvist, Julia R., Stojkovic, Tanya, Bello, Luca, Witting, Nanna, Duno, Morten, Leturcq, France, Bertolin, Cinzia, D'Ambrosio, Paola, Eymard, Bruno, Angelini, Corrado, Politano, Luisa, Laforêt, Pascal, Pegoraro, Elena
Foilsithe in Neurology (2015)

The clinical spectrum of CASQ1-related myopathy

le Semplicini, Claudio, Bertolin, Cinzia, Bello, Luca, Pantic, Boris, Guidolin, Francesca, Vianello, Sara, Catapano, Francesco, Colombo, Irene, Moggio, Maurizio, Gavassini, Bruno F., Cenacchi, Giovanna, Papa, Valentina, Previtero, Marco, Calore, Chiara, Sorarù, Gianni, Minervini, Giovanni, Tosatto, Silvio C.E., Stramare, Roberto, Pegoraro, Elena
Foilsithe in Neurology (2018)

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy

le Lombardi, Vittoria, Querin, Giorgia, Ziff, Oliver J., Zampedri, Luca, Martinelli, Ilaria, Heller, Carolin, Foiani, Martha, Bertolin, Cinzia, Lu, Ching-Hua, Malik, Bilal, Allen, Kezia, Rinaldi, Carlo, Zetterberg, Henrik, Heslegrave, Amanda, Greensmith, Linda, Hanna, Michael, Soraru, Gianni, Malaspina, Andrea, Fratta, Pietro
Foilsithe in Neurology (2019)

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

le Querin, Giorgia, Bertolin, Cinzia, Da Re, Elisa, Volpe, Marco, Zara, Gabriella, Pegoraro, Elena, Caretta, Nicola, Foresta, Carlo, Silvano, Maria, Corrado, Domenico, Iafrate, Massimo, Angelini, Lorenzo, Sartori, Leonardo, Pennuto, Maria, Gaiani, Alessandra, Bello, Luca, Semplicini, Claudio, Pareyson, Davide, Silani, Vincenzo, Ermani, Mario, Ferlin, Alberto, Sorarù, Gianni
Foilsithe in J Neurol Neurosurg Psychiatry (2016)

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis

le Calini, Daniela, Corrado, Lucia, Del Bo, Roberto, Gagliardi, Stella, Pensato, Viviana, Verde, Federico, Corti, Stefania, Mazzini, Letizia, Milani, Pamela, Castellotti, Barbara, Bertolin, Cinzia, Sorarù, Gianni, Cereda, Cristina, Comi, Giacomo P., D’Alfonso, Sandra, Gellera, Cinzia, Ticozzi, Nicola, Landers, John E., Ratti, Antonia, Silani, Vincenzo
Foilsithe in Neurobiol Aging (2013)

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

le Devoy, Anny, Kalmar, Bernadett, Stewart, Michelle, Park, Heesoon, Burke, Beverley, Noy, Suzanna J, Redhead, Yushi, Humphrey, Jack, Lo, Kitty, Jaeger, Julian, Mejia Maza, Alan, Sivakumar, Prasanth, Bertolin, Cinzia, Soraru, Gianni, Plagnol, Vincent, Greensmith, Linda, Acevedo Arozena, Abraham, Isaacs, Adrian M, Davies, Benjamin, Fratta, Pietro, Fisher, Elizabeth M C
Foilsithe in Brain (2017)

Screening of the PFN1 gene in sporadic ALS and in FTD

le Tiloca, Cinzia, Ticozzi, Nicola, Pensato, Viviana, Corrado, Lucia, Del Bo, Roberto, Bertolin, Cinzia, Fenoglio, Chiara, Gagliardi, Stella, Calini, Daniela, Lauria, Giuseppe, Castellotti, Barbara, Bagarotti, Alessandra, Corti, Stefania, Galimberti, Daniela, Cagnin, Annachiara, Gabelli, Carlo, Ranieri, Michela, Ceroni, Mauro, Siciliano, Gabriele, Mazzini, Letizia, Cereda, Cristina, Scarpini, Elio, Sorarù, Gianni, Comi, Giacomo P., D'Alfonso, Sandra, Gellera, Cinzia, Ratti, Antonia, Landers, John E., Silani, Vincenzo
Foilsithe 2012

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

le Pensato, Viviana, Tiloca, Cinzia, Corrado, Lucia, Bertolin, Cinzia, Sardone, Valentina, Del Bo, Roberto, Calini, Daniela, Mandrioli, Jessica, Lauria, Giuseppe, Mazzini, Letizia, Querin, Giorgia, Ceroni, Mauro, Cantello, Roberto, Corti, Stefania, Castellotti, Barbara, Soldà, Giulia, Duga, Stefano, Comi, Giacomo P., Cereda, Cristina, Sorarù, Gianni, D’Alfonso, Sandra, Taroni, Franco, Shaw, Christopher E., Landers, John E., Ticozzi, Nicola, Ratti, Antonia, Gellera, Cinzia, Silani, Vincenzo
Foilsithe in J Neurol (2015)

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

le van Rheenen, Wouter, Shatunov, Aleksey, Dekker, Annelot M, McLaughlin, Russell L, Diekstra, Frank P, Pulit, Sara L, van der Spek, Rick A A, Võsa, Urmo, de Jong, Simone, Robinson, Matthew R, Yang, Jian, Fogh, Isabella, van Doormaal, Perry TC, Tazelaar, Gijs H P, Koppers, Max, Blokhuis, Anna M, Sproviero, William, Jones, Ashley R, Kenna, Kevin P, van Eijk, Kristel R, Harschnitz, Oliver, Schellevis, Raymond D, Brands, William J, Medic, Jelena, Menelaou, Androniki, Vajda, Alice, Ticozzi, Nicola, Lin, Kuang, Rogelj, Boris, Vrabec, Katarina, Ravnik-Glavač, Metka, Koritnik, Blaž, Zidar, Janez, Leonardis, Lea, Grošelj, Leja Dolenc, Millecamps, Stéphanie, Salachas, François, Meininger, Vincent, de Carvalho, Mamede, Pinto, Susana, Mora, Jesus S, Rojas-García, Ricardo, Polak, Meraida, Chandran, Siddharthan, Colville, Shuna, Swingler, Robert, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Pittman, Alan, Sidle, Katie, Fratta, Pietro, Malaspina, Andrea, Topp, Simon, Petri, Susanne, Abdulla, Susanne, Drepper, Carsten, Sendtner, Michael, Meyer, Thomas, Ophoff, Roel A, Staats, Kim A, Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, Van Deerlin, Vivianna M, Trojanowski, John Q, Elman, Lauren, McCluskey, Leo, Basak, A Nazli, Tunca, Ceren, Hamzeiy, Hamid, Parman, Yesim, Meitinger, Thomas, Lichtner, Peter, Radivojkov-Blagojevic, Milena, Andres, Christian R, Maurel, Cindy, Bensimon, Gilbert, Landwehrmeyer, Bernhard, Brice, Alexis, Payan, Christine A M, Saker-Delye, Safaa, Dürr, Alexandra, Wood, Nicholas W, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean-François, Uitterlinden, Andre G, Rivadeneira, Fernando, Estrada, Karol, Hofman, Albert, Curtis, Charles, Blauw, Hylke M, van der Kooi, Anneke J, de Visser, Marianne, Goris, An, Weber, Markus, Shaw, Christopher E, Smith, Bradley N, Pansarasa, Orietta, Cereda, Cristina, Bo, Roberto Del, Comi, Giacomo P, D’Alfonso, Sandra, Bertolin, Cinzia, Sorarù, Gianni, Mazzini, Letizia, Pensato, Viviana, Gellera, Cinzia, Tiloca, Cinzia, Ratti, Antonia, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Arcuti, Simona, Capozzo, Rosa, Zecca, Chiara, Lunetta, Christian, Penco, Silvana, Riva, Nilo, Padovani, Alessandro, Filosto, Massimiliano, Muller, Bernard, Stuit, Robbert Jan, Blair, Ian, Zhang, Katharine, McCann, Emily P, Fifita, Jennifer A, Nicholson, Garth A, Rowe, Dominic B, Pamphlett, Roger, Kiernan, Matthew C, Grosskreutz, Julian, Witte, Otto W, Ringer, Thomas, Prell, Tino, Stubendorff, Beatrice, Kurth, Ingo, Hübner, Christian A, Leigh, P Nigel, Casale, Federico, Chio, Adriano, Beghi, Ettore, Pupillo, Elisabetta, Tortelli, Rosanna, Logroscino, Giancarlo, Powell, John, Ludolph, Albert C, Weishaupt, Jochen H, Robberecht, Wim, Van Damme, Philip, Franke, Lude, Pers, Tune H, Brown, Robert H, Glass, Jonathan D, Landers, John E, Hardiman, Orla, Andersen, Peter M, Corcia, Philippe, Vourc’h, Patrick, Silani, Vincenzo, Wray, Naomi R, Visscher, Peter M, de Bakker, Paul I W, van Es, Michael A, Pasterkamp, R Jeroen, Lewis, Cathryn M, Breen, Gerome, Al-Chalabi, Ammar, van den Berg, Leonard H, Veldink, Jan H
Foilsithe in Nat Genet (2016)