未登录 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
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy Reyngoudt, Harmen; Smith, Fiona E.; Araujo, Ericky Caldas de Almeida; Wilson, Ian; Fernandez-Torron, Roberto; James, Meredith K.; Moore, Ursula R.; Diaz-Manera, Jordi; Marty, Benjamin; Azzabou, Noura; Gordish, Heather; Rufibach, Laura; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Boisserie, Jean-Marc; Le Louer, Julien; Hilsden, Heather; Sutherland, Helen; Canal, Aurelie; Hogrel, Jean-Yves; Jacobs, Marni; Stojkovic, Tanya; Bushby, Kate; Mayhew, Anna; Straub, Volker; Carlier, Pierre G.; Blamire, Andrew M. 分享 收藏
Assessment of disease progression in dysferlinopathy: A 1-year cohort study Moore, Ursula; Jacobs, Marni; James, Meredith K.; Mayhew, Anna G.; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E.; Lofra, Robert Muni; Blamire, Andrew M.; Carlier, Pierre G.; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy; Duong, Tina; Berry, Katherine M.; Montiel-Morillo, Elena; Pedrosa-Hernandez, Irene; Holsten, Scott; Sanjak, Mohammed; Ashida, Ai; Sakamoto, Chikako; Tateishi, Takayuki; Yajima, Hiroyuki; Canal, Aurelie; Ollivier, Gwenn; Decostre, Valerie; Mendez, Juan Bosco; Praxedes, Nieves Sanchez-Aguilera; Thiele, Simone; Siener, Catherine; Shierbecker, Jeanine; Florence, Julaine M.; Vandevelde, Bruno; DeWolf, Brittney; Hutchence, Meghan; Gee, Richard; Pruegel, Juliana; Maron, Elke; Hilsden, Heather; Lochmueller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker; Arrieta, Adrienne; Hwang, Esther; Lee, Elaine; Illa, Isabel; Gallardo, Eduard; Belmonte Jimeno, Izaskun; Llauger Rossello, Jaume; Harwick, Bruce; Sykes, Jackie; Yetter, Brent; Smith, Mark; Lapeyssonie, Bernard; Bendahan, David; Le Fur, Yann; Shahram, Attarian; Albane, Testot-Ferry; Coppenrath, Eva M.; Harris, Elizabeth; Guglieri, Michela; Evangelista, Teresinha; Murphy, Alex; Moat, Dionne; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Galley, Debra; Calore, Chiara; Stramare, Roberto; Rampado, Alessandro; Gidaro, Teresa; Turk, Suna; Servais, Laurent; Theis, Cyrille; Diabate, Oumar; Schimmoeller, Linda; Foster, Glenn; Carbonell, Pilar; Cabrera, Macarena; Morgado, Yolanda; Gala, Susana Rico; Perez, Jennifer; Sawyer, Anne Marie; Clarke, Nigel F.; Sandaradura, Sarah; Ghaoui, Roula; Cornett, Kayla; Miller, Claire; Foster, Sheryl; Peduto, Anthony; Sato, Noriko; Tamaru, Takeshi; Kobayashi, Yoko; Ashida, Ai; Nakayama, Takahiro; Segawa, Kazuhiko; Ohtaguro, Sachiko; Nakamura, Harumasa; Ohhata, Maki; Kimura, En; Endo, Makiko; Brody, Nora; Leach, Meganne E.; Toles, Allyn; Fricke, Stanley T.; Otero, Hansel J. 分享 收藏
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials Diaz-Manera, Jordi; Fernandez-Torron, Roberto; LLauger, Jaume; James, Meredith K.; Mayhew, Anna; Smith, Fiona E.; Moore, Ursula R.; Blamire, Andrew M.; Carlier, Pierre G.; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Jacobs, Marni; Hodgson, Tim; Wallace, Dorothy; Ward, Louise; Smith, Mark; Stramare, Roberto; Rampado, Alessandro; Sato, Noriko; Tamaru, Takeshi; Harwick, Bruce; Gala, Susana Rico; Turk, Suna; Coppenrath, Eva M.; Foster, Glenn; Bendahan, David; Le Fur, Yann; Fricke, Stanley T.; Otero, Hansel; Foster, Sheryl L.; Peduto, Anthony; Sawyer, Anne Marie; Hilsden, Heather; Lochmuller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker 分享 收藏
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study Moore, Ursula R.; Jacobs, Marni; Fernandez-Torron, Roberto; Jang, Jiji; James, Meredith K.; Mayhew, Anna; Rufibach, Laura; Mittal, Plavi; Eagle, Michelle; Cnaan, Avital; Carlier, Pierre G.; Blamire, Andrew; Hilsden, Heather; Lochmueller, Hanns; Grieben, Ulrike; Spuler, Simone; Rocha, Carolina Tesi; Day, John W.; Jones, Kristi J.; Bharucha-Goebel, Diana X.; Salort-Campana, Emmanuelle; Harms, Matthew; Pestronk, Alan; Krause, Sabine; Schreiber-Katz, Olivia; Walter, Maggie C.; Paradas, Carmen; Hogrel, Jean-Yves; Stojkovic, Tanya; Takeda, Shin'ichi; Mori-Yoshimura, Madoka; Bravver, Elena; Sparks, Susan; Diaz-Manera, Jordi; Bello, Luca; Semplicini, Claudio; Pegoraro, Elena; Mendell, Jerry R.; Bushby, Kate; Straub, Volker 分享 收藏
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy Harris, Elizabeth; Topf, Ana; Barresi, Rita; Hudson, Judith; Powell, Helen; Tellez, James; Hicks, Debbie; Porter, Anna; Bertoli, Marta; Evangelista, Teresinha; Marini-Betollo, Chiara; Magnusson, Olafur; Lek, Monkol; MacArthur, Daniel; Bushby, Kate; Lochmueller, Hanns; Straub, Volker 分享 收藏
THE INTERNATIONAL CLINICAL OUTCOME STUDY IN DYSFERLINOPATHY Ghaoui, Roula; Meredith, James; Fernandez-Torron, Roberto; Moore, Ursula; Diaz-Manera, Jordi; Smith, Fiona E.; Mayhew, Anna; Jones, Kristi J.; Bushby, Kate; Straub, Volker 分享 收藏
Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bonnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; De Goede, Christian; da Silva, Tamiris Borges; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Muller, Juliane; Kingston, Helen; Mueller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmuller, Hanns; Senderek, Jan 分享 收藏
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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies Belaya, Katsiaryna; Cruz, Pedro M. Rodriguez; Liu, Wei Wei; Maxwell, Susan; McGowan, Simon; Farrugia, Maria E.; Petty, Richard; Walls, Timothy J.; Sedghi, Maryam; Basiri, Keivan; Yue, Wyatt W.; Sarkozy, Anna; Bertoli, Marta; Pitt, Matthew; Kennett, Robin; Schaefer, Andrew; Bushby, Kate; Parton, Matt; Lochmueller, Hanns; Palace, Jacqueline; Muntoni, Francesco; Beeson, David 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
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family Palmio, Johanna; Evila, Anni; Bashir, Ayat; Norwood, Fiona; Viitaniemi, Kati; Vihola, Anna; Huovinen, Sanna; Straub, Volker; Hackman, Peter; Hirano, Michio; Bushby, Kate; Udd, Bjarne 分享 收藏
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations Bladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barisic, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C.; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaida; van den Bergen, Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Janusz; Santos, Rosario; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Diaz-Manera, Jordi; Gallardo, Eduard; Karaduman, A. Ayse; Topaloglu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Kirschner, Jan; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Beroud, Christophe; Lochmueller, Hanns 分享 收藏
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants van den Bergen, Janneke C.; Hiller, Monika; Bohringer, Stefan; Vijfhuizen, Linda; Ginjaar, Hendrika B.; Chaouch, Amina; Bushby, Kate; Straub, Volker; Scoto, Mariacristina; Cirak, Sebahattin; Humbertclaude, Veronique; Claustres, Mireille; Scotton, Chiara; Passarelli, Chiara; Lochmueller, Hanns; Muntoni, Francesco; Tuffery-Giraud, Sylvie; Ferlini, Alessandra; Aartsma-Rus, Annemieke M.; Verschuuren, Jan J. G. M.; 't Hoen, Peter A. C.; Spitali, Pietro 分享 收藏
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies Ayoglu, Burcu; Chaouch, Amina; Lochmueller, Hanns; Politano, Luisa; Bertini, Enrico; Spitali, Pietro; Hiller, Monika; Niks, Eric H.; Gualandi, Francesca; Ponten, Fredrik; Bushby, Kate; Aartsma-Rus, Annemieke; Schwartz, Elena; Le Priol, Yannick; Straub, Volker; Uhlen, Mathias; Cirak, Sebahattin; 't Hoen, Peter A. C.; Muntoni, Francesco; Ferlini, Alessandra; Schwenk, Jochen M.; Nilsson, Peter; Szigyarto, Cristina Al-Khalili 分享 收藏
One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development Connolly, Anne M.; Florence, Julaine M.; Cradock, Mary M.; Eagle, Michelle; Flanigan, Kevin M.; McDonald, Craig M.; Karachunski, Peter I.; Darras, Basil T.; Bushby, Kate; Malkus, Elizabeth C.; Golumbek, Paul T.; Zaidman, Craig M.; Miller, J. Philip; Mendell, Jerry R. 分享 收藏
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/-Cardiac Myosin (MYH7) Distal Myopathy Lamont, Phillipa J.; Wallefeld, William; Hilton-Jones, David; Udd, Bjarne; Argov, Zohar; Barboi, Alexandru C.; Bonneman, Carsten; Boycott, Kym M.; Bushby, Kate; Connolly, Anne M.; Davies, Nicholas; Beggs, Alan H.; Cox, Gerald F.; Dastgir, Jahannaz; DeChene, Elizabeth T.; Gooding, Rebecca; Jungbluth, Heinz; Muelas, Nuria; Palmio, Johanna; Penttila, Sini; Schmedding, Eric; Suominen, Tiina; Straub, Volker; Staples, Christopher; Van den Bergh, Peter Y. K.; Vilchez, Juan J.; Wagner, Kathryn R.; Wheeler, Patricia G.; Wraige, Elizabeth; Laing, Nigel G. 分享 收藏
Two recurrent mutations are associated with GNE myopathy in the North of Britain Chaouch, Amina; Brennan, Kathryn M.; Hudson, Judith; Longman, Cheryl; McConville, John; Morrison, Patrick J.; Farrugia, Maria E.; Petty, Richard; Stewart, Willie; Norwood, Fiona; Horvath, Rita; Chinnery, Patrick F.; Costigan, Donald; Winer, John; Polvikoski, Tuomo; Healy, Estelle; Sarkozy, Anna; Evangelista, Teresinha; Pogoryelova, Oksana; Eagle, Michelle; Bushby, Kate; Straub, Volker; Lochmueller, Hanns 分享 收藏
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