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

著者: Caroppo, Francesca, Cama, Elena, Salmaso, Roberto, Bertolin, Cinzia, Salviati, Leonardo, Belloni Fortina, Anna
出版年 Clin Case Rep (2020)

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

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

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

著者: 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
出版年 Neurology (2015)

The clinical spectrum of CASQ1-related myopathy

著者: 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
出版年 Neurology (2018)

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

著者: 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
出版年 Neurology (2019)

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

著者: 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
出版年 J Neurol Neurosurg Psychiatry (2016)

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

著者: 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
出版年 Neurobiol Aging (2013)

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

著者: 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
出版年 Brain (2017)

Screening of the PFN1 gene in sporadic ALS and in FTD

著者: 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
出版事項 2012

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

著者: 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
出版年 J Neurol (2015)

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

著者: 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
出版年 Nat Genet (2016)