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Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy Chesshyre, Mary; Ridout, Deborah; Stimpson, Georgia; Ricotti, Valeria; De Lucia, Silvana; Niks, Erik H.; Straub, Volker; Servais, Laurent; Hogrel, Jean-Yves; Baranello, Giovanni; Manzur, Adnan; UK NorthStar Clinical Network, Francesco; Muntoni, Francesco; IMDEX Network 分享 收藏
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Retrospective Cohort Study of Additional Procedures and Transplant-Free Survival for Patients With Functionally Single Ventricle Disease Undergoing Staged Palliation in England and Wales Huang, Qi; Ridout, Deborah; Tsang, Victor; Drury, Nigel E.; Jones, Timothy J.; Bellsham-Revell, Hannah; Hadjicosta, Elena; Seale, Anna N.; Mehta, Chetan; Pagel, Christina; Crowe, Sonya; Espuny-Pujol, Ferran; Franklin, Rodney C. G.; Brown, Katherine L. 分享 收藏
Influence of Sex, Race and Ethnicity, and Deprivation on Survival and Completion of the Fontan Pathway for Children With Functionally Single Ventricle Heart Disease Knowles, Rachel L.; Ridout, Deborah; Huang, Qi; Franklin, Rodney C.; Seale, Anna N.; Bellsham-Revell, Hannah; Espuny-Pujol, Ferran; Brown, Katherine L. 分享 收藏
PAEDIATRIC LOW-GRADE GLIOMA (PLGG): A LIFELONG DISEASE THAT BEGINS IN CHILDHOOD. EVALUATION AND PROGNOSTICATION OF LONG-TERM PLGG SURVIVOR FUNCTIONAL AND QUALITY OF LIFE OUTCOMES 儿科低度神经胶质瘤 (PLGG): 一种始于童年的终身疾病。长期PLGG幸存者功能和生活质量结果的评估和预测 Green, Katie L.; Stone, Tom J.; Jacques, Thomas S.; Pickles, Jessica C.; Ridout, Deborah; Aquilina, Kristian; Phipps, Kim; Bowman, Richard; Gains, Jenny; Aldridge, Brownwen; Gan, Hoong-Wei; Jorgensen, Mette; OHare, Patricia; Slater, Olga; Depani, Sarita; Syzchot, Elwira; Chang, Yen; Leyden, Deirdre; Bluebond-Langner, Myra; Hargrave, Darren 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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mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria Gurung, Sonam; Timmermand, Oskar Vilhelmsson; Perocheau, Dany; Gil-Martinez, Ana Luisa; Minnion, Magdalena; Touramanidou, Loukia; Fang, Sherry; Messina, Martina; Khalil, Youssef; Spiewak, Justyna; Barber, Abigail R.; Edwards, Richard S.; Pinto, Patricia Lipari; Finn, Patrick F.; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G. V.; Ridout, Deborah; Heywood, Wendy; Hargreaves, Ian; Heales, Simon; Mills, Philippa B.; Waddington, Simon N.; Gissen, Paul; Eaton, Simon; Ryten, Mina; Feelisch, Martin; Frassetto, Andrea; Witney, Timothy H.; Baruteau, Julien 分享 收藏
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys 量化Duchenne肌营养不良症的运动功能变异性: 英国百分位数的NorthStar动态评估，10m步行速度和GC治疗男孩的地板速度上升 Stimpson, Georgia; Ridout, Deborah; Wolfe, Amy; Milev, Evelin; O'Reilly, Emer; Manzur, Adnan; Sarkozy, Anna; Muntoni, Francesco; Cole, Tim J.; Baranello, Giovanni 分享 收藏
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Risk Factors for Reintervention With Functionally Single-Ventricle Disease Undergoing Staged Palliation in England and Wales: A Retrospective Cohort Study Huang, Qi; Ridout, Deborah; Tsang, Victor; Drury, Nigel E.; Jones, Timothy J.; Bellsham-Revell, Hannah; Hadjicosta, Elena; Seale, Anna N.; Mehta, Chetan; Pagel, Christina; Crowe, Sonya; Espuny-Pujol, Ferran; Franklin, Rodney C. G.; Brown, Kate L. 分享 收藏
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy Sarkozy, Anna; Sa, Mario; Ridout, Deborah; Fernandez-Garcia, Miguel Angel; Distefano, Maria Grazia; Main, Marion; Sheehan, Jennie; Manzur, Adnan Y.; Munot, Pinki; Robb, Stephanie; Wraige, Elizabeth; Quinlivan, Rosaline; Scoto, Mariacristina; Baranello, Giovanni; Gowda, Vasantha; Mein, Rachael; Phadke, Rahul; Jungbluth, Heinz; Muntoni, Francesco 分享 收藏
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Quality of Life and Social and Psychological Outcomes in Adulthood Following Allogeneic HSCT in Childhood for Inborn Errors of Immunity Nicholson, Bethany; Goodman, Rupert; Day, James; Worth, Austen; Carpenter, Ben; Sandford, Kit; Morris, Emma C.; Burns, Siobhan O.; Ridout, Deborah; Titman, Penny; Campbell, Mari 分享 收藏
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