未登录 Exposure-response of serum biomarkers to vamorolone, a dissociative corticosteroidal anti-inflammatory drug, in 4-to <7-year children vamorolone（一种解离性皮质类固醇抗炎药）对4至<7岁儿童血清生物标志物的暴露-反应关系 Mummidivarpu, Swati; Dang, Utkarsh J.; Ziemba, Michael; Hathout, Yetrib; Clemens, Paula R.; Damsker, Jesse; Hagerty, Laura; Jusko, William J.; Smith, Edward C.; Mah, Jean K.; Guglieri, Michela; Nevo, Yoram; Kuntz, Nancy; Mcdonald, Craig M.; Ryan, Monique M.; Castro, Diana; Finkel, Richard S.; Conklin, Laurie S.; Mccall, John M.; Nagaraju, Kanneboyina; Van Den Anker, John; Hoffman, Eric P. 分享 收藏
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Survival in Duchenne muscular dystrophy in Australia: a 50 year retrospective cohort study 澳大利亚杜氏肌营养不良症患者的生存情况：一项为期50年的回顾性队列研究 Davidson, Zoe E.; Vidmar, Suzanna; Griffiths, Amanda; Howard, Mark E.; Berlowitz, David J.; Jones, Elizabeth F.; Scully, Tim; Treanor, Darran; Singh, Bikram; Prior, David; Frost, Matilde G.; Forbes, Robin; Billich, Natassja; Adams, Justine; Carroll, Kate; Al Lawati, Tuqa; Bourne, Hannah; Kornberg, Andrew J.; Ryan, Monique M.; Woodcock, Ian R.; Yiu, Eppie M.; Cheung, Michael M. H. 分享 收藏
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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone 基因组和RNA测序仅通过外显子组测序就可以促进神经肌肉诊断从34% 中62% Marchant, Rhett G.; Bryen, Samantha J.; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R.; Corbett, Alastair; Davis, Mark R.; Ganesh, Vijay S.; Ghaoui, Roula; Jones, Kristi J.; Kornberg, Andrew J.; Lek, Monkol; Liang, Christina; MacArthur, Daniel G.; Oates, Emily C.; O'Donnell-Luria, Anne; O'Grady, Gina L.; Osei-Owusu, Ikeoluwa A.; Rafehi, Haloom; Reddel, Stephen W.; Roxburgh, Richard H.; Ryan, Monique M.; Sandaradura, Sarah A.; Scott, Liam W.; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J.; Waddell, Leigh B.; Cooper, Sandra T. 分享 收藏
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy Vamorolone在Duchenne肌营养不良症男孩中48周的疗效和安全性 Dang, Utkarsh J.; Damsker, Jesse M.; Guglieri, Michela; Clemens, Paula R.; Perlman, Seth J.; Smith, Edward C.; Horrocks, Iain; Finkel, Richard S.; Mah, Jean K.; Deconinck, Nicolas; Goemans, Nathalie M.; Haberlova, Jana; Straub, Volker; Mengle-Gaw, Laurel; Schwartz, Benjamin D.; Harper, Amy; Shieh, Perry B.; De Waele, Liesbeth; Castro, Diana; Yang, Michele L.; Ryan, Monique M.; McDonald, Craig M.; Tulinius, Mar; Webster, Richard I.; Mcmillan, Hugh J.; Kuntz, Nancy; Rao, Vamshi K.; Baranello, Giovanni; Spinty, Stefan; Childs, Anne-Marie; Sbrocchi, Annie M.; Selby, Kathryn A.; Monduy, Migvis; Nevo, Yoram; Vilchez, Juan J.; Nascimento-Osorio, Andres; Niks, Erik H.; De Groot, Imelda J. M.; Katsalouli, Marina; van den Anker, John N.; Ward, Leanne M.; Leinonen, Mika; D'Alessandro, Andrea L.; Hoffman, Eric P. 分享 收藏
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy Taldefgrobep Alfa的临床开发: 一种抗肌生成抑制素Adnectin，用于治疗杜氏肌营养不良症 Muntoni, Francesco; Byrne, Barry J.; Mcmillan, Hugh J.; Ryan, Monique M.; Wong, Brenda L.; Dukart, Juergen; Bansal, Amita; Cosson, Valerie; Dreghici, Roxana; Guridi, Maitea; Rabbia, Michael; Staunton, Hannah; Tirucherai, Giridhar S.; Yen, Karl; Yuan, Xiling; Wagner, Kathryn R. 分享 收藏
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders Evesson, Frances J.; Dziaduch, Gregory; Bryen, Samantha J.; Moore, Francesca; Pittman, Sara; Devanapalli, Beena; Waddell, Leigh B.; Ryan, Monique M.; Menezes, Manoj P.; Weihl, Conrad C.; Tolun, Adviye Ayper; Zaidman, Craig; Young, Helen; Ades, Lesley C.; Cooper, Sandra T. 分享 收藏
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results 致力于探索高剂量Nusinersen治疗脊髓性肌萎缩症的研究: 研究设计和A部分结果 Finkel, Richard S.; Day, John W.; Pascual Pascual, Samuel Ignacio; Ryan, Monique M.; Mercuri, Eugenio; De Vivo, Darryl C.; Montes, Jacqueline; Gurgel-Giannetti, Juliana; Monine, Michael; Gambino, Giulia; Makepeace, Corinne; Foster, Richard; Berger, Zdenek 分享 收藏
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Scientific rationale for a higher dose of nusinersen 高剂量nusinersen的科学原理 Finkel, Richard S.; Ryan, Monique M.; Pascual Pascual, Samuel Ignacio; Day, John W.; Mercuri, Eugenio; De Vivo, Darryl C.; Foster, Richard; Montes, Jacqueline; Gurgel-Giannetti, Juliana; MacCannell, Drew; Berger, Zdenek 分享 收藏
Onasemnogene abeparvovec in spinal muscular atrophy: an Australian experience of safety and efficacy D'Silva, Arlene M.; Holland, Sandra; Kariyawasam, Didu; Herbert, Karen; Barclay, Peter; Cairns, Anita; MacLennan, Suzanna C.; Ryan, Monique M.; Sampaio, Hugo; Smith, Nicholas; Woodcock, Ian R.; Yiu, Eppie M.; Alexander, Ian E.; Farrar, Michelle A. 分享 收藏
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease 儿科charcot-marie-tooth病管理的临床实践指南 Yiu, Eppie M.; Bray, Paula; Baets, Jonathan; Baker, Steven K.; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A.; Finkel, Richard S.; Haberlova, Jana; Kennedy, Rachel A.; Moroni, Isabella; Nicholson, Garth A.; Ramchandren, Sindhu; Reilly, Mary M.; Rose, Kristy; Shy, Michael E.; Siskind, Carly E.; Yum, Sabrina W.; Menezes, Manoj P.; Ryan, Monique M.; Burns, Joshua 分享 收藏
Effect of a multicomponent nutritional supplement on functional outcomes for Duchenne muscular dystrophy: A randomized controlled trial 多组分营养补充剂对杜氏肌营养不良症功能结局的影响: 一项随机对照试验 Davidson, Zoe E.; Hughes, Ian; Ryan, Monique M.; Kornberg, Andrew J.; Cairns, Anita G.; Jones, Kristi; Hutchence, Meghan; Sampaio, Hugo; Morrison, Margot; Truby, Helen 分享 收藏
International retrospective natural history study of LMNA-related congenital muscular dystrophy Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andres; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michele; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, Adele; Deconinck, Nicolas; Desguerre, Isabelle; Erazo-Torricelli, Ricardo; Gurgel-Giannetti, Juliana; Ishiyama, Akihiko; Kleinsteuber, Karin S.; Lagrue, Emmanuelle; Laugel, Vincent; Mercier, Sandra; Messina, Sonia; Politano, Luisa; Ryan, Monique M.; Sabouraud, Pascal; Schara, Ulrike; Siciliano, Gabriele; Vercelli, Liliana; Voit, Thomas; Yoon, Grace; Alvarez, Rachel; Muntoni, Francesco; Pierson, Tyler M.; Gomez-Andres, David; Foley, A. Reghan; Quijano-Roy, Susana; Bonnemann, Carsten G.; Bonne, Gisele 分享 收藏
The severe epilepsy syndromes of infancy: A population-based study Howell, Katherine B.; Freeman, Jeremy L.; Mackay, Mark T.; Fahey, Michael C.; Archer, John; Berkovic, Samuel F.; Chan, Eunice; Dabscheck, Gabriel; Eggers, Stefanie; Hayman, Michael; Holberton, James; Hunt, Rodney W.; Jacobs, Susan E.; Kornberg, Andrew J.; Leventer, Richard J.; Mandelstam, Simone; McMahon, Jacinta M.; Mefford, Heather C.; Panetta, Julie; Riseley, Jessica; Rodriguez-Casero, Victoria; Ryan, Monique M.; Schneider, Amy L.; Smith, Lindsay J.; Stark, Zornitza; Wong, Flora; Yiu, Eppie M.; Scheffer, Ingrid E.; Harvey, A. Simon 分享 收藏
Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study Balestrini, Simona; Mikati, Mohamad A.; Alvarez-Garcia-Roves, Reyes; Carboni, Michael; Hunanyan, Arsen S.; Kherallah, Bassil; McLean, Melissa; Prange, Lyndsey; De Grandis, Elisa; Gagliardi, Alessandra; Pisciotta, Livia; Stagnaro, Michela; Veneselli, Edvige; Campistol, Jaume; Fons, Carmen; Pias-Peleteiro, Leticia; Brashear, Allison; Miller, Charlotte; Samoes, Raquel; Brankovic, Vesna; Padiath, Quasar S.; Potic, Ana; Pilch, Jacek; Vezyroglou, Aikaterini; Bye, Ann M. E.; Davis, Andrew M.; Ryan, Monique M.; Semsarian, Christopher; Hollingsworth, Georgina; Scheffer, Ingrid E.; Granata, Tiziana; Nardocci, Nardo; Ragona, Francesca; Arzimanoglou, Alexis; Panagiotakaki, Eleni; Carrilho, Ines; Zucca, Claudio; Novy, Jan; Parowicz, Marek; Weckhuysen, Sarah; Pons, Roser; Groppa, Sergiu; Sinden, Daniel S.; Pitt, Geoffrey S.; Tinker, Andrew; Ashworth, Michael; Michalak, Zuzanna; Thom, Maria; Cross, J. Helen; Vavassori, Rosaria; Kaski, Juan P.; Sisodiya, Sanjay M.; Dzieiyc, Karolina; Mazurkiewicz-Beldzinska, Maria 分享 收藏
Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy Heier, Christopher R.; Zhang, Aiping; Nguyen, Nhu Y.; Tully, Christopher B.; Panigrahi, Aswini; Gordish-Dressman, Heather; Pandey, Sachchida Nand; Guglieri, Michela; Ryan, Monique M.; Clemens, Paula R.; Thangarajh, Mathula; Webster, Richard; Smith, Edward C.; Connolly, Anne M.; McDonald, Craig M.; Karachunski, Peter; Tulinius, Mar; Harper, Amy; Mah, Jean K.; Fiorillo, Alyson A.; Chen, Yi-Wen 分享 收藏
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