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Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies Costa-comellas, Laura; Monforte, Mauro; Sanchez-montanez, Angel; Romero-duque, Penelope; Pegoraro, Elena; Diaz-manera, Jordi; Vlodavets, Dmitry; Maggi, Lorenzo; Moscatelli, Marco; Damico, Adele; Olive, Montse; Alonso-perez, Jorge; Comi, Giacomo; Escudero-fernandez, Jose Miguel; Urcuyo, Gabriela S.; Pichiecchio, Anna; Berardinelli, Angela; Claeys, Kristl G.; Bruno, Claudio; Panicucci, Chiara; Bortolani, Sara; Torchia, Eleonora; Ricci, Enzo; Monges, Soledad; Bevilacqua, Jorge A.; Diaz-jara, Jorge; Walter, Maggie C.; Thiele, Simone; Lokken, Nicoline; Vissing, John; Quijano-roy, Susana; Carlier, Robert Y.; Voermans, Nicol C.; Marini-bettolo, Chiara; Guglieri, Michela; Straub, Volker; Leonardis, Lea; Munell, Francina; Gomez-andres, David; Tasca, Giorgio 分享 收藏
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A 肢体带型肌营养不良R1/2A的肢体运动功能 James, Meredith K.; Iammarino, Megan A.; Reash, Natalie F.; Steiner, Christopher L.; Knight, Audrey B.; Smith, Melissa A.; Moat, Dionne; Michell-Sodhi, Jassi; Wong, Karen S. W.; Grover, Emma; Robinson, Emma-Jayne; Mayhew, Anna G.; Eagle, Michelle; Elseed, Maha; Guglieri, Michela; Straub, Volker; Marini-Bettolo, Chiara; Muni-Lofra, Robert; Diaz-Manera, Jordi; Lowes, Linda Pax; Alfano, Lindsay N. 分享 收藏
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Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials (vol 143, 108608, 2024) Diaz-Manera, Jordi; Hughes, Derralynn; Erdem-Ozdamar, Sevim; Tard, Celine; Behin, Anthony; Bouhour, Francoise; Davison, James; Hahn, Si Houn; Haack, Kristina An; Huynh-Ba, Olivier; Periquet, Magali; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; van der Ploeg, Ans T. 分享 收藏
Real-world evidence for Pompe disease remains fragmented. Comment on A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem by Klein et al. Kruijshaar, Michelle E.; House, Tiffany; Schoser, Benedikt; Laforet, Pascal; Theunissen, Maudy T. M.; Wenninger, Stephan; Hundsberger, Thomas; Diaz-Manera, Jordi; van der Ploeg, Ans T.; van der Beek, Nadine A. M. E. 分享 收藏
Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na-MRI in Dysferlinopathy and Healthy Controls 利用23Na-MRI对dysferlinopathy患者和健康对照组运动后肌肉钠动力学进行快速定量评估 Neal, Mary A.; Bolano-Diaz, Carla F.; Richardson, Mark; Michell-Sodhi, Jassi; Muni-Lofra, Robert; James, Meredith K.; Hollingsworth, Kieren G.; Hilsden, Heather; Wilson, Ian; Blamire, Andrew M.; Straub, Volker; Thelwall, Peter E.; Diaz-Manera, Jordi 分享 收藏
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Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy Duchenne肌营养不良成人患者中，失步行走年龄与心脏功能的关系 Schiava, Marianela; Bourke, John P.; Diaz-Manera, Jordi; Johnson, Anna; Elseed, Maha A.; Tasca, Giorgio; Kadhim, Kadhim; Straub, Volker; Bettolo, Chiara Marini; Guglieri, Michela 分享 收藏
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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
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker 分享 收藏
NEO1/NEO-EXT studies: Long-term muscle quantitative magnetic resonance imaging and functional efficacy in adults with lateonset Pompe disease (LOPD) on avalglucosidase alfa treatment Byrne, Barry; Carlier, Pierre G.; Vissing, John; Dimachkie, Mazen M.; Barohn, Richard; Kishnani, Priya S.; Ladha, Shafeeq; Mengelh, Eugen; Sacconi, Sabrina; Trivedi, Jaya; Young, Peter; Haack, Kristina An; Armstrong, Nicole; Miossec, Patrick; Thibault, Nathan; Sparks, Susan; Schoser, Benedikt; Diaz-Manera, Jordi 分享 收藏
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