未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Cerebral foreign body reaction (CFBR) after endovascular treatments is a rare event to be aware of: case series and review of literature 经血管治疗后的大脑异物反应（CFBR）是一种需要关注的罕见事件：病例系列及文献综述 Atanasio, Giorgia; Bertino, Salvatore; Velo, Mariano; Tessitore, Agostino; Zaccone, Claudio; Masaracchio, Alessio; Granata, Francesca; Vinci, Sergio; Toscano, Antonio; Musumeci, Olimpia 分享 收藏
分享 收藏
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelango 分享 收藏
Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies Experience From the Italian Network Bortolani, Sara; Savarese, Marco; Vattemi, Gaetano; Bonanno, Silvia; Falzone, Yuri M.; Pugliese, Alessia; Primiano, Guido; Sancricca, Cristina; Lopergolo, Diego; Greco, Giulia; Gemelli, Chiara; Ravaglia, Sabrina; Bencivenga, Roberta P.; Velardo, Daniele; Magri, Francesca; Valentino, Maria L.; Cheli, Marta; Torchia, Eleonora; Lucchini, Matteo; Petrucci, Antonio; Ricci, Giulia; Garibaldi, Matteo; Astrea, Guja; Rubegni, Anna; Angelini, Corrado I.; Ariatti, Alessandra; Santorelli, Filippo M.; Ruggieri, Alessandra; Antonini, Giovanni; Siciliano, Gabriele; Filosto, Massimiliano; Mirabella, Massimiliano; Liguori, Rocco; Comi, Giacomo P.; Ruggiero, Lucia; Grandis, Marina; Massa, Roberto; Malandrini, Alessandro; Servidei, Serenella; Mongini, Tiziana E.; Rodolico, Carmelo; Toscano, Antonio; Previtali, Stefano C.; Tonin, Paola; Diaz-Manera, Jordi; Monforte, Mauro; Ricci, Enzo; Maggi, Lorenzo; Tasca, Giorgio 分享 收藏
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression Monceau, Alexandra; Nath, Rasya Gokul; Suarez-Calvet, Xavier; Musumeci, Olimpia; Toscano, Antonio; Kierdaszuk, Biruta; Kostera-Pruszczyk, Anna; Dominguez-Gonzalez, Cristina; Hernandez-Lain, Aurelio; Paradas, Carmen; Rivas, Eloy; Papadimas, George; Papadopoulos, Constantinos; Chrysanthou-Piterou, Margarita; Gallardo, Eduard; Olive, Montse; Lilleker, James; Roberts, Mark E.; Marchese, Domenica; Lunazzi, Giulia; Heyn, Holger; Fernandez-Simon, Esther; Villalobos, Elisa; Clark, James; Katsikis, Panos; Collins, Catherine; Mehra, Priyanka; Laidler, Zoe; Vincent, Amy; Tasca, Giorgio; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Raben, Nina; Diaz-Manera, Jordi 分享 收藏
Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial Toscano, Antonio; Pollissard, Laurence; Msihid, Jerome; van der Beek, Nadine; Kishnani, Priya S.; Dimachkie, Mazen M.; Berger, Kenneth I.; Dasmahapatra, Pronabesh; Thibault, Nathan; Hamed, Alaa; Zhou, Tianyue; Haack, Kristina An; Schoser, Benedikt 分享 收藏
分享 收藏
Switching treatment to cipaglucosidase alfa plus miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease Toscano, Antonio; Byrne, Barry J.; Claeys, Kristl G.; Diaz-Manera, Jordi; Dimachkie, Mazen M.; Kishnani, Priya S.; Kushlaf, Hani; Mozaffar, Tahseen; Roberts, Mark E.; Hummel, Noemi; Holdbrook, Fred K.; Shohet, Simon; Wasfi, Yasmine; Schoser, Benedikt 分享 收藏
Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL Mozaffar, Tahseen; Bratkovic, Drago; Byrne, Barry J.; Claeys, Kristl G.; Diaz-Manera, Jordi; Dimachkie, Mazen M.; Kishnani, Priya S.; Kushlaf, Hani; Roberts, Mark E.; Toscano, Antonio; Castelli, Jeffrey; Holdbrook, Fred K.; Das, Sheela Sitaraman; Wasfi, Yasmine; Schoser, Benedikt 分享 收藏
COMET post hoc analysis: Efficacy of long-term avalglucosidase alfa in subgroups of participants with late-onset Pompe disease Toscano, Antonio; Kishnani, Priya; Dimachkie, Mazen M.; Sacconi, Sabrina; Van der Beek, Nadine; Roberts, Mark E.; Suwazono, Shugo; Choi, Young Chul; Sgobbi de Souza, Paulo Victor; Schoser, Benedikt; Armstrong, Nicole; Huynh-Ba, Olivier; Thibault, Nathan; Periquet, Magali; Diaz-Manera, Jordi 分享 收藏
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond Toscano, Antonio; Musumeci, Olimpia; Sacchini, Michele; Ravaglia, Sabrina; Siciliano, Gabriele; Fiumara, Agata; Verrecchia, Elena; Maione, Melania; Gentile, Jennifer; Fischetto, Rita; Crescimanno, Grazia; Taurisano, Roberta; Sechi, Annalisa; Gasperini, Serena; Cianci, Vittoria; Maggi, Lorenzo; Parini, Rossella; Lupica, Antonino; Scarpa, Maurizio 分享 收藏
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation Karazi, Walaa S.; Scalco, Renata S. G.; Stemmerik, Mads G.; Lokken, Nicoline; Lucia, Alejandro; Santalla, Alfredo; Martinuzzi, Andrea; Vavla, Marinela; Reni, Gianluigi; Toscano, Antonio; Musumeci, Olimpia V.; Kouwenberg, Carlyn V.; Laforet, Pascal; Millan, Beatriz San; Vieitez, Irene; Siciliano, Gabriele; Kuehnle, Enrico; Trost, Rebecca; Sacconi, Sabrina; Durmus, Hacer; Kierdaszuk, Biruta; Wakelin, Andrew L.; Andreu, Antoni; Pinos, Tomas; Marti, Ramon; Quinlivan, Ros; Vissing, John C.; Voermans, Nicol C. 分享 收藏
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience Fortunato, Fernanda; Bianchi, Francesca; Ricci, Giulia; Torri, Francesca; Gualandi, Francesca; Neri, Marcella; Farne, Marianna; Giannini, Fabio; Malandrini, Alessandro; Volpi, Nila; Lopergolo, Diego; Silani, Vincenzo; Ticozzi, Nicola; Verde, Federico; Pareyson, Davide; Fenu, Silvia; Bonanno, Silvia; Nigro, Vincenzo; Peduto, Cristina; D'Ambrosio, Paola; Zeuli, Roberta; Zanobio, Mariateresa; Picillo, Esther; Servidei, Serenella; Primiano, Guido; Sancricca, Cristina; Sciacco, Monica; Brusa, Roberta; Filosto, Massimiliano; Cotti Piccinelli, Stefano; Pegoraro, Elena; Mongini, Tiziana; Solero, Luca; Gadaleta, Giulio; Brusa, Chiara; Minetti, Carlo; Bruno, Claudio; Panicucci, Chiara; Sansone, Valeria A.; Lunetta, Christian; Zanolini, Alice; Toscano, Antonio; Pugliese, Alessia; Nicocia, Giulia; Bertini, Enrico; Catteruccia, Michela; Diodato, Daria; Atalaia, Antonio; Evangelista, Teresinha; Siciliano, Gabriele; Ferlini, Alessandra 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
