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FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6 Watts, Laura M.; Bunyan, David J.; Giacopuzzi, Edoardo; Walker, Susan; Gazdagh, Gabriella; Thomas, N. Simon; Straub, Volker; Childs, Anne-Marie; Forsyth, Joan; Vogt, Julie; Khan, Shagufta; Willis, Tracey A.; Taylor, Jenny C.; Pagnamenta, Alistair T. 分享 收藏
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 Nusinersen对2型和3型非卧床型脊髓性肌萎缩症患儿呼吸进展的治疗作用 Trucco, Federica; Ridout, Deborah; Weststrate, Harriet; Scoto, Mariacristina; Rohwer, Annemarie; Coratti, Giorgia; Main, Marion L.; Mayhew, Anna G.; Montes, Jacqueline; De Sanctis, Roberto; Pane, Marika; Pera, Maria Carmela; Sansone, Valeria A.; Albamonte, Emilio; D'Amico, Adele; Bruno, Claudio; Messina, Sonia S.; Childs, Anne-Marie; Willis, Tracey; Ong, Min T.; Servais, Laurent; Majumdar, Anirban; Hughes, Imelda; Marini-Bettolo, Chiara; Parasuraman, Deepak; Gowda, Vasantha L.; Baranello, Giovanni; Bertini, Enrico S.; De Vivo, Darryl C.; Darras, Basil T.; Day, John W.; Mayer, Oscar; Zolkipli-Cunningham, Zarazuela; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco 分享 收藏
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Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain Cornell, Nikki; Childs, Anne-Marie; Wraige, Elizabeth; Munot, Pinki; Ambegaonkar, Gautam; Chow, Gabriel; Hughes, Imelda; Illingworth, Marjorie; Majumdar, Anirban; Marini-Bettolo, Chiara; Parasuraman, Deepak; Spinty, Stefan; Willis, Tracey; Scoto, Mariacristina; Baranello, Giovanni 分享 收藏
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A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency Pagnamenta, Alistair T. T.; Yu, Jing; Willis, Tracey A. A.; Hashim, Mona; Seaby, Eleanor G. G.; Walker, Susan; Xian, Jiaqi; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Forzano, Francesca; Cox, Helen; Dabir, Tabib; Brady, Angela F. F.; Ghali, Neeti; Atanur, Santosh S. S.; Ennis, Sarah; Baralle, Diana; Taylor, Jenny C. C. 分享 收藏
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy A Randomized Clinical Trial Guglieri, Michela; Bushby, Kate; McDermott, Michael P.; Hart, Kimberly A.; Tawil, Rabi; Martens, William B.; Herr, Barbara E.; McColl, Elaine; Speed, Chris; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M.; Eagle, Michelle; Brown, Mary W.; Willis, Tracey; Griggs, Robert C. 分享 收藏
Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy Schiava, Marianela; Amos, Rachel; VanRuiten, Henriette; McDermott, Michael P.; Martens, Williams B.; Gregory, Stephanie; Mayhew, Anna; McColl, Elaine; Tawil, Rabi; Willis, Tracey; Bushby, Kate; Griggs, Robert C.; Guglieri, Michela 分享 收藏
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients Torelli, Silvia; Scaglioni, Domenic; Sardone, Valentina; Ellis, Matthew J.; Domingos, Joana; Jones, Adam; Feng, Lucy; Chambers, Darren; Eastwood, Deborah M.; Leturcq, France; Ben Yaou, Rabah; Urtizberea, Andoni; Sabouraud, Pascal; Barnerias, Christine; Stojkovic, Tanya; Ricci, Enzo; Beuvin, Maud; Bonne, Gisele; Sewry, Caroline A.; Willis, Tracey; Kulshrestha, Richa; Tasca, Giorgio; Phadke, Rahul; Morgan, Jennifer E.; Muntoni, Francesco 分享 收藏
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study iSMAC队列研究中2型和3型脊髓性肌萎缩症的呼吸轨迹 Trucco, Federica; Ridout, Deborah; Scoto, Mariacristina; Coratti, Giorgia; Main, Marion L.; Lofra, Robert Muni; Mayhew, Anna G.; Montes, Jacqueline; Pane, Marika; Sansone, Valeria; Albamonte, Emilio; D'Amico, Adele; Bertini, Enrico; Messina, Sonia; Bruno, Claudio; Parasuraman, Deepak; Childs, Anne-Marie; Gowda, Vasantha; Willis, Tracey; Ong, Min; Marini-Bettolo, Chiara; De Vivo, Darryl C.; Darras, Basil T.; Day, John; Kichula, Elizabeth A.; Mayer, Oscar H.; Nazario, Aledie A. Navas; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco 分享 收藏
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9 Murphy, Lindsay B.; Schreiber-Katz, Olivia; Rafferty, Karen; Robertson, Agata; Topf, Ana; Willis, Tracey A.; Heidemann, Marcel; Thiele, Simone; Bindoff, Laurence; Laurent, Jean-Pierre; Lochmueller, Hanns; Mathews, Katherine; Mitchell, Claudia; Stevenson, John Herbert; Vissing, John; Woods, Lacey; Walter, Maggie C.; Straub, Volker 分享 收藏
Clinical, histological, and genetic characterization of PYROXD1-related myopathy PYROXD1-related肌病的临床，组织学和遗传特征 Lornage, Xaviere; Schartner, Vanessa; Balbueno, Ines; Biancalana, Valerie; Willis, Tracey; Echaniz-Laguna, Andoni; Scheidecker, Sophie; Quinlivan, Ros; Fardeau, Michel; Malfatti, Edoardo; Lannes, Beatrice; Sewry, Caroline; Romero, Norma B.; Laporte, Jocelyn; Bohm, Johann 分享 收藏
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints Murphy, Alexander P.; Morrow, Jasper; Dahlqvist, Julia R.; Stojkovic, Tanya; Willis, Tracey A.; Sinclair, Christopher D. J.; Wastling, Stephen; Yousry, Tarek; Hanna, Michael S.; James, Meredith K.; Mayhew, Anna; Eagle, Michelle; Lee, Laurence E.; Hogrel, Jean-Yves; Carlier, Pierre G.; Thornton, John S.; Vissing, John; Hollingsworth, Kieren G.; Straub, Volker 分享 收藏
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy Sarkozy, Anna; Torelli, Silvia; Mein, Rachael; Henderson, Matt; Phadke, Rahul; Feng, Lucy; Sewry, Caroline; Ala, Pierpaolo; Yau, Michael; Bertoli, Marta; Willis, Tracey; Hammans, Simon; Manzur, Adnan; Sframeli, Maria; Norwood, Fiona; Rakowicz, Wojtek; Radunovic, Aleksandar; Vaidya, Sujit S.; Parton, Matt; Walker, Mark; Marino, Silvia; Offiah, Curtis; Farrugia, Maria Elena; Mamutse, Godwin; Marini-Bettolo, Chiara; Wraige, Elizabeth; Beeson, David; Lochmuller, Hanns; Straub, Volker; Bushby, Kate; Barresi, Rita; Muntoni, Francesco 分享 收藏
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness Lukacs, Zoltan; Cobos, Paulina Nieves; Wenninger, Stephan; Willis, Tracey A.; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C.; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Straub, Volker; Mueller-Felber, Wolfgang; Schoser, Benedikt 分享 收藏
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK Figueroa-Bonaparte, S.; Hudson, J.; Barresi, R.; Polvikoski, T.; Williams, T.; Toepf, A.; Harris, E.; Hilton-Jones, D.; Petty, R.; Willis, T. A.; Longman, C.; Dougan, C. F.; Parton, M. J.; Hanna, M. G.; Quinlivan, R.; Farrugia, M. E.; Guglieri, M.; Bushby, K.; Straub, V.; Lochmueller, H.; Evangelista, T. 分享 收藏
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