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Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint Servais, Laurent; Strijbos, Paul; Poleur, Margaux; Mirea, Andrada; Butoianu, Nina; Sansone, Valeria A.; Vuillerot, Carole; Schara-Schmidt, Ulrike; Scoto, Mariacristina; Seferian, Andreea M.; Previtali, Stefano C.; Tulinius, Mar; Nascimento, Andres; Furlong, Pat; Singh, Teji; Dreghici, Roxana Donisa; Goemans, Nathalie; Mercuri, Eugenio; Straub, Volker; Ormazabal, Maitea Guridi; Braid, Jessica; Muntoni, Francesco; Tricot, Alexis; Annoussamy, Melanie; Eggenspieler, Damien 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
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy A 30-Month Nonrandomized Controlled Open-Label Extension Trial Mah, Jean K.; Clemens, Paula R.; Guglieri, Michela; Smith, Edward C.; Finkel, Richard S.; Tulinius, Mar; Nevo, Yoram; Ryan, Monique M.; Webster, Richard; Castro, Diana; Kuntz, Nancy L.; McDonald, Craig M.; Damsker, Jesse M.; Schwartz, Benjamin D.; Mengle-Gaw, Laurel J.; Jackowski, Stefan; Stimpson, Georgia; Ridout, Deborah A.; Ayyar-Gupta, Vandana; Baranello, Giovanni; Manzur, Adnan Y.; Muntoni, Francesco; Gordish-Dressman, Heather; Leinonen, Mika; Ward, Leanne M.; Hoffman, Eric P.; Dang, Utkarsh J. 分享 收藏
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study Parasyri, Maria; Brandstroem, Per; Uusimaa, Johanna; Ostergaard, Elsebet; Hikmat, Omar; Isohanni, Pirjo; Naess, Karin; de Coo, I. F. M.; Nascimento Osorio, Andres; Nuutinen, Matti; Lindberg, Christopher; Bindoff, Laurence A.; Tulinius, Mar; Darin, Niklas; Sofou, Kalliopi 分享 收藏
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study Bjorkman, Kristoffer; Vissing, John; ostergaard, Elsebet; Bindoff, Laurence A.; de Coo, Irenaeus F. M.; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas 分享 收藏
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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
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency 代谢转变是可逆婴儿呼吸链缺陷恢复的基础 Hathazi, Denisa; Griffin, Helen; Jennings, Matthew J.; Giunta, Michele; Powell, Christopher; Pearce, Sarah F.; Munro, Benjamin; Wei, Wei; Boczonadi, Veronika; Poulton, Joanna; Pyle, Angela; Calabrese, Claudia; Gomez-Duran, Aurora; Schara, Ulrike; Pitceathly, Robert D. S.; Hanna, Michael G.; Joost, Kairit; Cotta, Ana; Paim, Julia Filardi; Navarro, Monica Machado; Duff, Jennifer; Mattmann, Andre; Chapman, Kristine; Servidei, Serenella; Della Marina, Adela; Uusimaa, Johanna; Roos, Andreas; Mootha, Vamsi; Hirano, Michio; Tulinius, Mar; Giri, Manta; Hoffmann, Eric P.; Lochmuller, Hanns; DiMauro, Salvatore; Minczuk, Michal; Chinnery, Patrick F.; Muller, Juliane S.; Horvath, Rita 分享 收藏
Interim report on the safety and efficacy of longer-term treatment with nusinersen in later-onset spinal muscular atrophy (SMA): Results from the shine study Kirschner, J.; Darras, B. T.; Farrar, M. A.; Mercuri, E.; Chiriboga, C. A.; Kuntz, N. L.; Shieh, P. B.; Tulinius, M.; Montes, J.; Reyna, S. P.; Gambino, G.; Foster, R.; Bhan, I.; Wong, J.; Farwell, W. 分享 收藏
Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function Hoffman, Eric P.; Schwartz, Benjamin D.; Mengle-Gaw, Laurel J.; Smith, Edward C.; Castro, Diana; Mah, Jean K.; McDonald, Craig M.; Kuntz, Nancy L.; Finkel, Richard S.; Guglieri, Michela; Bushby, Katharine; Tulinius, Mar; Nevo, Yoram; Ryan, Monique M.; Webster, Richard; Smith, Andrea L.; Morgenroth, Lauren P.; Arrieta, Adrienne; Shimony, Maya; Siener, Catherine; Jaros, Mark; Shale, Phil; McCall, John M.; Nagaraju, Kanneboyina; van den Anker, John; Conklin, Laurie S.; Cnaan, Avital; Gordish-Dressman, Heather; Damsker, Jesse M.; Clemens, Paula R. 分享 收藏
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Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug 杜氏肌营养不良症的IIa期试验表明，vamorolone是一流的解离性类固醇抗炎药 Conklin, Laurie S.; Damsker, Jesse M.; Hoffman, Eric P.; Jusko, William J.; Mavroudis, Panteleimon D.; Schwartz, Benjamin D.; Mengle-Gaw, Laurel J.; Smith, Edward C.; Mah, Jean K.; Guglieri, Michela; Nevo, Yoram; Kuntz, Nancy; McDonald, Craig M.; Tulinius, Mar; Ryan, Monique M.; Webster, Richard; Castro, Diana; Finkel, Richard S.; Smith, Andrea L.; Morgenroth, Lauren P.; Arrieta, Adrienne; Shimony, Maya; Jaros, Mark; Shale, Phil; McCall, John M.; Hathout, Yetrib; Nagaraju, Kanneboyina; van den Anker, John; Ward, Leanne M.; Ahmet, Alexandra; Cornish, Michaelyn R.; Clemens, Paula R. 分享 收藏
A multinational study on motor function in early-onset FSHD Mah, Jean K.; Feng, Jia; Jacobs, Marni B.; Duong, Tina; Carroll, Kate; de Valle, Katy; Carty, Cara L.; Morgenroth, Lauren P.; Guglieri, Michela; Ryan, Monique M.; Clemens, Paula R.; Thangarajh, Mathula; Webster, Richard; Smith, Edward; Connolly, Anne M.; McDonald, Craig M.; Karachunski, Peter; Tulinius, Mar; Harper, Amy; Cnaan, Avital; Chen, Yi-Wen 分享 收藏
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy Mercuri, E.; Darras, B. T.; Chiriboga, C. A.; Day, J. W.; Campbell, C.; Connolly, A. M.; Iannaccone, S. T.; Kirschner, J.; Kuntz, N. L.; Saito, K.; Shieh, P. B.; Tulinius, M.; Mazzone, E. S.; Montes, J.; Bishop, K. M.; Yang, Q.; Foster, R.; Gheuens, S.; Bennett, C. F.; Farwell, W.; Schneider, E.; De Vivo, D. C.; Finkel, R. S.; Bradley, Walter G.; Kaufmann, Petra; Dickson, Patricia I.; Reingold, Stephen C.; Davis, Charles S.; Arredondo, Kristen; Castro, Diana; Cowie, Margaret; Farrow-Gillespie, Alan; Hebert, Andrew; Kauk, Melissa; Miller, Nancy; Nelson, Leslie; Spain, Thomas, Jr.; Cappell, Joshua; Constantinescu, Andrei; Cruz, Rosangel; Dastgir, Jahannaz; De Vivo, Darryl; Dunaway, Sally; Engelstad, Kristin; Khandji, Alexander G.; Kramer, Samantha; Marra, Jonathan; Popolizio, Molly; Salazar, Rachel; Weimer, Louis H.; Aziz-Zaman, Sonya; LaMarca, Nicole; Ghosh, Partha; Al-Ghamdi, Fouad; Liew, Wendy; Graham, Robert; Berde, Charles; Sethna, Navil; Koka, Anjali; Wang, Luke; Laine, Regina; Souris, Michelle; Ordonez, Grace; Harrington, Timothy; Szelag, Heather; Pasternak, Amy; Mirek, Elizabeth; Quigley, Janet; Finkel, Richard; Berry, Debbie; Civitello, Matthew; Endsley, Julie Duke; Eden, Candace; Leon, Wendy; O'Reardon, Kathleen; Sigurdardottir, Laufey; Johnson, Craig; Turner, Jenna; Vega, Melisa; Weber-Guzman, Fabiola; Zinn, Matthias; Rocha, Ana Carolina Tesi; Watson, Karolina; D'Souza, Genevieve; Ramamurthi, R. J.; Gee, Richard; Kitsuwa-Lowe, Janis; Hagerman, Katharine; Crasta, Sheela; Welsh, Lesly; Paulose, Shirley; McFall, Danielle; Perez, Jennifer; Patnaik, Swetapadma; Sanjanwala, Bharati; Sakamuri, Sarada; Proud, Crystal; Purse, Bona Park; Duong, Trinh Tina; Sampson, Jacinda; Tennekoon, Gihan; Brandsema, John; Glanzman, Allan; Flickinger, Jean; Toms, Michele; Adang, Laura; Stanford, Delores; Mayer, Oscar; Zigmont, Joshua; Chadehumbe, Madeline; Kichula, Elizabeth; Finanger, Erika; Russman, Barry; Roberts, Colin; Frank, Andrea; Benjamin, Danielle; Zilke, Kirsten; Golumbek, Paul T.; Zaidman, Craig M.; Anand, Pallavi; Gadeken, Rebecca; Siener, Catherine; Kuntz, Nancy; Epstein, Leon; Krueger, Jena; Goldman, Stewart; Krosschell, Kristin; Blomgren, Colleen; Choi, Hyoung Won; Kurz, Jonathan; Parsons, Julie; Janas, Joanne; Yang, Michele; Ballard, Alison; Carry, Terri; Shea, Stephanie; Bielsky, Alan; Booker, Kaylee; Camuto, Alicia; Lord-Halvorson, Sierra; Gibbons, Melissa; Zimmerman, Carl; Allen, Victoria; Fuhr, Peter; Kelley, Carolyn; Johnson, Hannah; Tran, Vi; VanderVeen, Gina; Shieh, Perry; Fowler, Eileen; Parziale, Nicholas; Rao, Lekha; Skura, Christy; Kelley, Carolyn; Shu, Francy; Oskoui, Maryam; Zielinski, David; Poulin, Chantal; Ingelmo, Pablo Mauricio; Desilets, Sarah Turgeon; Dinunzio, Pamela; Rivera, Gonzalo; Srour, Myriam; Arpin, Stephanie; Goobie, Sharan; Gibson, Paul; Scholtes, Cheryl; McDonald, Wendy; Zapata, Eugenio; Nguyen, Cam-Tu Emilie; Servais, Laurent; Gargaun, Elena; Le Moing, Anne-Gaelle; Gidaro, Teresa; Vialle, Raphael; Guye, Marie-Laurence; Lilien, Charlotte; Olliver, Gwenn; Gilabert, Stephanie; Borell, Sabine; Wider, Sabine; Stein, Sabine; Vogt, Sibylle; Krueger, Marcus; Pechmann, Astrid; Rippberger, Bianca; Eckenweiler, Matthias; Schara, Ulrike; Koelbel, Heike; Andres, Barbara; Rupprich, Katrin; Gangfuss, Andrea; Jachertz, Philipp; Della Marina, Adela; Sponemann, Nina; Pane, Markia; Palermo, Concetta; Piastra, Marco; Fanelli, Lavinia; De Sanctis, Roberto; Genovese, Orazio; Antonaci, Laura; Pera, Maria Carmela; Lamendola, Priscilla; Messina, Sonia; Vita, Gianluca; Di Bella, Vincenzo; Sframeli, Maria; la Rosa, Matteo; Barcellona, Costanza; Distefano, Maria Grazia; Cavallaro, Filippo; Versaci, Antonio; De Luca, Francesco; Vita, Giuseppe; Nacimento Osorio, Andres; Tizzano, Eduardo; Ortez Gonzalez, Carlos Ignacio; Ortigoza Escobar, Juan Dario; Colomer Oferil, Juame; Medina Cantillo, Julita; Febrer Rotger, Anna; Vigo Morancho, Meritxell; Eldblom, Johanneh; Darin, Niklas; Kroksmark, Anna Karin; Lindstedt, Asa; Michael, Eva; Kimber, Eva; Wahlgren, Lisa; Chan, Sophelia Hoi-Shan; Chim, Stella; Chiu, Joseph; Ho, Alvin Chi Chung; Ip, Jing Kun Janice; Lam, Wendy Wai Man; Ng, Maggie Chui-San; Wan, Connie; Wong, Virginia Chun Nei; Yue, Yvonne; Arakawa, Reiko; Yamauchi, Akemi; Nagata, Satoru; Ito, Yasushi; Nakatsukasa, Hidetsugu; Takeshita, Akiko; Hirasawa, Kyoko; Ikai, Tetsuo; Eto, Kaoru; Otamni, Yui; Takeshima, Yasuhiro; Fukuda, Noroki; Tanaka, Yasuhiro; Shimomura, Hideki; Lee, Tomoko; Shibano, Takayuki; Tachikawa, Tomohiro; Chae, Jong-Hee; Lim, Byung Chan; Shin, Hyung-Ik; Kim, Soo Yeon; Choi, Sun Ah; Son, Woo Sung; Jo, Hyemi; Chun, Seong Min; Kim, Hyuna 分享 收藏
Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne Lourbakos, A.; Yau, N.; de Bruijn, P.; Hiller, M.; Kozaczynska, K.; Jean-Baptiste, R.; Reza, M.; Wolterbeek, R.; Koeks, Z.; Ayoglu, B.; de Klerk, D.; Campion, G.; Zaharieva, I.; Nadarajah, V. D.; Nilsson, P.; Szigyarto, C. Al-Khalili; Muntoni, F.; Lochmuller, H.; Verschuuren, J. J.; Goemans, N.; Tulinius, M.; Niks, E. H.; de Kimpe, S.; Aartsma-Rus, A.; 't Hoen, Peter A. C.; Spitali, P. 分享 收藏
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients Sofou, Kalliopi; de Coo, Irenaeus F. M.; Ostergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lonnqvist, Tuula; Bindoff, Laurence Albert; Tulinius, Mar; Darin, Niklas 分享 收藏
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy Finkel, R. S.; Mercuri, E.; Darras, B. T.; Connolly, A. M.; Kuntz, N. L.; Kirschner, J.; Chiriboga, C. A.; Saito, K.; Servais, L.; Tizzano, E.; Topaloglu, H.; Tulinius, M.; Montes, J.; Glanzman, A. M.; Bishop, K.; Zhong, Z. J.; Gheuens, S.; Bennett, C. F.; Schneider, E.; Farwell, W.; De Vivo, D. C. 分享 收藏
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