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

od Caroppo, Francesca, Cama, Elena, Salmaso, Roberto, Bertolin, Cinzia, Salviati, Leonardo, Belloni Fortina, Anna
Izdano u Clin Case Rep (2020)

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

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

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

od 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
Izdano u Neurology (2015)

The clinical spectrum of CASQ1-related myopathy

od 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
Izdano u Neurology (2018)

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

od 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
Izdano u Neurology (2019)

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

od 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
Izdano u J Neurol Neurosurg Psychiatry (2016)

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

od 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
Izdano u Neurobiol Aging (2013)

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

od 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
Izdano u Brain (2017)

Screening of the PFN1 gene in sporadic ALS and in FTD

od 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
Izdano 2012

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

od 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
Izdano u J Neurol (2015)

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

od 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
Izdano u Nat Genet (2016)