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

Bằng Caroppo, Francesca, Cama, Elena, Salmaso, Roberto, Bertolin, Cinzia, Salviati, Leonardo, Belloni Fortina, Anna
Xuất bản năm Clin Case Rep (2020)

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

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

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

Bằng 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
Xuất bản năm Neurology (2015)

The clinical spectrum of CASQ1-related myopathy

Bằng 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
Xuất bản năm Neurology (2018)

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

Bằng 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
Xuất bản năm Neurology (2019)

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

Bằng 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
Xuất bản năm J Neurol Neurosurg Psychiatry (2016)

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

Bằng 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
Xuất bản năm Neurobiol Aging (2013)

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

Bằng 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
Xuất bản năm Brain (2017)

Screening of the PFN1 gene in sporadic ALS and in FTD

Bằng 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
Được phát hành 2012

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

Bằng 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
Xuất bản năm J Neurol (2015)

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

Bằng 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
Xuất bản năm Nat Genet (2016)