ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies by CIRAK, Sebahattin, REGHAN FOLEY, Aileen, ROPER, Helen, LONGMAN, Cheryl, KORINTHENBERG, Rudolf, MARROSU, Gianni, NÜRNBERG, Peter, MICHELE, Daniel E, PLAGNOL, Vincent, HURLES, Matt, MOORE, Steven A, SEWRY, Caroline A, HERRMANN, Ralf, CAMPBELL, Kevin P, VOIT, Thomas, MUNTONI, Francesco, WILLER, Tobias, YAU, Shu, STEVENS, Elizabeth, TORELLI, Silvia, BRODD, Lina, KAMYNINA, Alisa, VONDRACEK, Petr

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6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen by Govoni, Alessandra, Ricci, Giulia, Maggi, Lorenzo, Meneri, Megi, Bonanno, Silvia, Bello, Luca, Caponnetto, Claudia, Passamano, Luigia, Grandis, Marina, Trojsi, Francesca, Cerri, Federica, Gadaleta, Giulio, Bozzoni, Virginia, Caumo, Luca, Piras, Rachele, Tanel, Raffaella, Saccani, Elena, Vacchiano, Veria, Sorarù, Gianni, D'Errico, Eustachio, Tramacere, Irene, Bortolani, Sara, Pavesi, Giovanni, Riccardo, Zanin, Silvestrini, Mauro, Politano, Luisa, Schenone, Angelo, Previtali, Stefano, Berardinelli, Angela, Turri, Mara, Verriello, Lorenzo, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Maioli, Mariantonietta, Marrosu, Gianni, Simone, Isabella, Mongini, Tiziana Enrica, Pegoraro, Elena, Corti, Stefania, Siciliano, Gabriele, Comi, Giacomo Pietro

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Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 by Akman, H. Orhan, Aykit, Yavuz, Amuk, Ozge Ceren, Malfatti, Edoardo, Romero, Norma B, Maioli, Maria Antonietta, Piras, Rachele, DiMauro, Salvatore, Marrosu, Gianni

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Vaccination recommendations for patients with neuromuscular disease by Esposito, Susanna, Bruno, Claudio, Berardinelli, Angela, Filosto, Massimiliano, Mongini, Tiziana, Morandi, Lucia, Musumeci, Olimpia, Pegoraro, Elena, Siciliano, Gabriele, Tonin, Paola, Marrosu, Gianni, Minetti, Carlo, Servida, Maura, Fiorillo, Chiara, Conforti, Giorgio, Scapolan, Silvia, Ansaldi, Filippo, Vianello, Andrea, Castaldi, Silvana, Principi, Nicola, Toscano, Antonio, Moggio, Maurizio

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Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group by Filosto, Massimiliano, Cotti Piccinelli, Stefano, Ravaglia, Sabrina, Servidei, Serenella, Moggio, Maurizio, Musumeci, Olimpia, Donati, Maria Alice, Pegoraro, Elena, Di Muzio, Antonio, Maggi, Lorenzo, Tonin, Paola, Marrosu, Gianni, Sancricca, Cristina, Lerario, Alberto, Sacchini, Michele, Semplicini, Claudio, Bozzoni, Virginia, Telese, Roberta, Bonanno, Silvia, Piras, Rachele, Maioli, Maria Antonietta, Ricci, Giulia, Vercelli, Liliana, Galvagni, Anna, Gallo Cassarino, Serena, Caria, Filomena, Mongini, Tiziana, Siciliano, Gabriele, Padovani, Alessandro, Toscano, Antonio

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Late-onset polyucosan body myopathy in five patients with a homozygous mutation in GYG1 by Akman, H. Orhan, Aykit, Yavuz, Amuk, Ozge Ceren, Malfatti, Edoardo, Romero, Norma B, Maioli, Maria Antonietta, Piras, Rachele, Dimauro, Salvatore, Marrosu, Gianni

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A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers by Cau, Milena, Boccone, Loredana, Mateddu, Anna, Addis, Maria, Serrenti, Marianna, Chessa, Roberta, Marrosu, Gianni, Loudianos, Georgios, Melis, Maria Antonietta

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A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart by Muntoni, F, Wilson, L, Marrosu, G, Marrosu, M G, Cianchetti, C, Mestroni, L, Ganau, A, Dubowitz, V, Sewry, C

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Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy by Muntoni, Francesco, Di Lenarda, Andrea, Porcu, Maurizio, Sinagra, Gianfranco, Mateddu, Anna, Marrosu, Gianni, Ferlini, Alessandra, Cau, Milena, Milasin, Jelena, Melis, Maria Antonietta, Marrosu, Maria Giovanna, Cianchetti, Carlo, Sanna, Antonio, Falaschi, Arturo, Camerini, Fulvio, Giacca, Mauro, Mestroni, Luisa

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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene by Kenna, Kevin P., Chia, Ruth, Dominov, Janice A., Nalls, Mike A., van Vugt, Joke J.F.A., Simone, Isabella, Caredda, Carla, Milia, Antonio, Floris, Gianluca, Caponnetto, Claudia, Mandich, Paola, Mora, Gabriele, Sideri, Riccardo, Penco, Silvana, Mandrioli, Jessica, Trojsi, Francesca, Ticca, Anna, Ortu, Enzo, Pugliatti, Maura, Benigni, Michele, Brunetti, Maura, Marrali, Giuseppe, Riva, Nilo, Conforti, Francesca L., Messina, Sonia, D’Alfonso, Sandra, Baloh, Robert H., Penny, Michelle, Moreno, Cristiane de Araujo Martins, Chung, Wendy K., Cirulli, Elizabeth T., Harris, Tim, Krueger, Brian J., Lasseigne, Brittany N., McKenna-Yasek, Diane, Myers, Richard M., Pulst, Stefan M., Raphael, Alya R., Rouleau, Guy A., Sapp, Peter C., Waite, Lindsay L., Wang, Quanli, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Hornstein, Eran, Patsopoulos, Nikolaos A., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Baxi, Emily, LeNail, Alex, Benatar, Michael, Hussain, Sumaira, Swenson, Andrea, Jackson, Carlayne, So, Yuen, Wuu, Joanne, Silani, Vincenzo, Fogh, Isabella, Cereda, Cristina, Ceroni, Mauro, Mazzini, Letizia, Maderna, Luca, Sorarù, Gianni, Bernard, Emilien, Laaksovirta, Hannu, McKenna-Yasek, Diane, Asress, Seneshaw, Al-Sarraj, Safa, Scholz, Sonja W., MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Dunckley, Travis L., Troncoso, Juan C., Moisse, Matthieu, Drory, Vivian E., Turner, Martin R., Blair, Ian P., de Carvalho, Mamede, Hide, Winston, Glass, Jonathan, Mill, Jonathan, Newhouse, Stephen, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, van den Berg, Leonard, Williams, Kelly L., Zatz, Mayana, Rothstein, Jeffrey D., Simmons, Zachary, Van Damme, Philip, Sabatelli, Mario, Trojanowski, John Q., Brown, Robert H., Veldink, Jan H., Tienari, Pentti

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Gender differences in motor and non-motor symptoms among Sardinian patients with Parkinson's disease by Solla, Paolo, Cannas, Antonino, Ibba, Federica Carla, Loi, Federico, Corona, Marta, Orofino, Gianni, Marrosu, Maria Giovanna, Marrosu, Francesco

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Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations by Gavassini, Bruno F., Carboni, Nicola, Nielsen, Jørgen E., Danielsen, Else R., Thomsen, Carsten, Svenstrup, Kirsten, Bello, Luca, Maioli, Maria Antonietta, Marrosu, Giovanni, Ticca, Anna Filomena, Mura, Marco, Marrosu, Maria Giovanna, Soraru, Gianni, Angelini, Corrado, Vissing, John, Pegoraro, Elena

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Metabolomics As a Tool for the Characterization of Drug-Resistant Epilepsy by Murgia, Federica, Muroni, Antonella, Puligheddu, Monica, Polizzi, Lorenzo, Barberini, Luigi, Orofino, Gianni, Solla, Paolo, Poddighe, Simone, Del Carratore, Francesco, Griffin, Julian L, Atzori, Luigi, Marrosu, Francesco

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C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson’s disease complicated by psychosis or dementia in a Sardinian population... by Cannas, Antonino, Solla, Paolo, Borghero, Giuseppe, Floris, Gian Luca, Chio, Adriano, Mascia, Marcello Mario, Modugno, Nicola, Muroni, Antonella, Orofino, Gianni, Di Stefano, Francesca, Calvo, Andrea, Moglia, Cristina, Restagno, Gabriella, Meloni, Mario, Farris, Rita, Ciaccio, Daniela, Puddu, Roberta, Vacca, Melisa Iris, Melis, Rosanna, Murru, Maria Rita, Tranquilli, Stefania, Corongiu, Daniela, Rolesu, Marcella, Cuccu, Stefania, Marrosu, Maria Giovanna, Marrosu, Francesco

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An unusual delusion of duplication in a patient affected by Dementia with Lewy bodies by Solla, Paolo, Mura, Gioia, Cannas, Antonino, Floris, Gianluca, Fonti, Davide, Orofino, Gianni, Carta, Mauro Giovanni, Marrosu, Francesco

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Effect of drug treatment changes and seizure outcomes on depression and suicidality in adults with drug‐resistant focal epilepsy by Mula, Marco, Borghs, Simon, Ferro, Bruno, Zaccara, Gaetano, Ferlazzo, Edoardo, Romigi, Andrea, Gambardella, Antonio, Galimberti, Carlo Andrea, Valisi, Cristina, Paladin, Francesco, Dainese, Filippo, Eleopra, Roberto, Lettieri, Christian, Pauletto, Giada, Zanoni, Tiziano, Ferlisi, Monica, Pierini, Francesco, Ranzato, Federica, Cantisani, Teresa Anna, Piersanti, Chiara, Nardini, Federica, Cecconi, Michela, Foschi, Nicoletta, Fiori, Chiara, Petrelli, Cristina, Rocchi, Raffaele, Celli, Lorenzo, Marino, Daniela, Aloisi, Paolo, Iudice, Alfonso, Bartolini, Emanuele, Paganini, Marco, Romoli, Anna Maria, Pizzo, Francesca, Zaccara, Gaetano, Luciana, Tramacere, La Neve, Angela, Francavilla, Teresa, Ladogana, Marianna, Paciello, Nicola, Boero, Giovanni, Mascia, Addolorata, Specchio, Luigi Maria, Pascarella, Maria Grazia, Giallonardo, Anna Teresa, Fattouch, Jiinane, Casciato, Sara, Mecarelli, Oriano, Pulitano, Patrizia, Zarabla, Alessia, Feleppa, Michele, D’Argento, Maria Rosaria, Habetswallner, Francesco, De Martino, Bernardo, Cutolo, Amelia, Romigi, Andrea, Striano, Salvatore, Franceschetti, Silvana, Rossi, Davide Sebastiano, Villani, Flavio, Didato, Giuseppe, Minicucci, Fabio, Leopizzi, Emanuela, Meletti, Stefano, Giovannini, Giada, Micheluzzi, Roberto, Riguzzi, Patrizia, Tinuper, Paolo, Mostacci, Barbara, Broli, Marcella, Canevini, Maria Paola, Scornavacca, Giulia, Fois, Chiara, Marrosu, Francesco, Orofino, Gianni, Sofia, Vito, Pappalardo, Irene, Sueri, Chiara, Giuliano, Loretta, Daniele, Ornella, Zummo, Leila, Pisani, Francesco, Loddo, Giuseppe, Stilo, Cesare, Pisani, Laura Rosa, Leonardi, Cinzia, Ferlazzo, Edoardo, Consoli, Domenico, Gattuso, Caterina, Elia, Maurizio, Figura, Maria Grazia, Ottonello, Gianadrea, Arecco, Daniela, Pantusa, Maria, Monti, Fabrizio, Belluzzo, Marco, Tomaselli, Marinella, Bongiovanni, Luigi Giuseppe, Banfi, Paola, Mariani, Valeria

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Validated outcome of treatment changes according to International League Against Epilepsy criteria in adults with drug‐resistant focal epilepsy by Mula, Marco, Zaccara, Gaetano, Ferrò, Bruno, Canevini, Maria Paola, Mascia, Addolorata, Mecarelli, Oriano, Michelucci, Roberto, Pisani, Laura Rosa, Specchio, Luigi Maria, Striano, Salvatore, Perucca, Emilio, Valisi, Cristina, Paladin, Francesco, Dainese, Filippo, Eleopra, Roberto, Pauletto, Giada, Zanoni, Tiziano, Ferlisi, Monica, Pierini, Francesco, Ranzato, Federica, Cantisani, Teressa Anna, Piersanti, Chiara, Nardini, Federica, Cecconi, Michela, Foschi, Nicoletta, Fiori, Chiara, Petrelli, Cristina, Rocchi, Raffaele, Celli, Lorenzo, Marino, Daniela, Aloisi, Paolo, Iudice, Alfonso, Bartolini, Emanuele, Paganini, Marco, Romoli, Anna Maria, Pizzo, Francesca, Luciana, Tramacere, Francavilla, Teresa, Ladogana, Marianna, Paciello, Nicola, Boero, Giovanni, Pascarella, Maria Grazia, Giallonardo, Anna Teresa, Fattouch, Jiinane, Casciato, Sara, Pulitano, Patrizia, Feleppa, Michele, Habetswallner, Francesco, Martino, Bernardo De, Cutolo, Amelia, Marciani, Maria Grazia, Romigi, Andrea, Albanese, Maria, Ianniciello, Marta, Vito, Marianna De, Rossi, Davide Sebastiano, Villani, Flavio, Didato, Giuseppe, Minicucci, Fabio, Leopizzi, Emanuela, Meletti, Stefano, Giovannini, Giada, Micheluzzi, Roberto, Riguzzi, Patrizia, Tinuper, Paolo, Mostacci, Barbara, Broli, Marcella, Scornavacca, Giulia, Sechi, Gianpietro, Fenu, Silia, Fois, Chiara, Marrosu, Francesco, Orofino, Gianni, Sofia, Vito, Pappalardo, Irene, Sueri, Chiara, Giuliano, Loretta, Daniele, Ornella, Zummo, Leila, Pisani, Francesco, Loddo, Giuseppe, Stilo, Cesare, Aguglia, Umberto, Leonardi, Cinzia, Ferlazzo, Edoardo, Bellavia, Gattuso, Caterina, Elia, Maurizio, Figura, Maria Grazia, Ottonello, Gianadrea, Arecco, Daniela, Gambardella, Antonio, Pantusa, Maria, Monti, Fabrizio, Belluzzo, Marco, Tomaselli, Marinella, Bongiovanni, Luigi Giuseppe, Brigo, Francesco, Banfi, Paola, Mariani, Valeria

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Rasagiline and Pisa syndrome in Parkinson’s disease patients by Solla, Paolo, Cannas, Antonino, Orofino, Gianni, Marrosu, Francesco

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The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms by Cannas, Antonino, Borghero, Giuseppe, Floris, Gian Luca, Solla, Paolo, Chiò, Adriano, Traynor, Bryan J., Calvo, Andrea, Restagno, Gabriella, Majounie, Elisa, Costantino, Emanuela, Piras, Valeria, Lavra, Loredana, Pani, Carla, Orofino, Gianni, Di Stefano, Francesca, Tacconi, Paolo, Mascia, Marcello Mario, Muroni, Antonella, Murru, Maria Rita, Tranquilli, Stefania, Corongiu, Daniela, Rolesu, Marcella, Cuccu, Stefania, Marrosu, Francesco, Marrosu, Maria Giovanna

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ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry by Borghero, Giuseppe, Pugliatti, Maura, Marrosu, Francesco, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D, Cau, Tea B, Loi, Daniela, Ticca, Anna, Traccis, Sebastiano, Manera, Umberto, Canosa, Antonio, Moglia, Cristina, Calvo, Andrea, Barberis, Marco, Brunetti, Maura, Renton, Alan E, Nalls, Mike A, Traynor, Bryan J, Restagno, Gabriella, Chiò, Adriano

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