未登录Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phillipa J.; Mowat, David; Fitzsimons, Robin B.; Corbett, Alastair J.; Ryan, Monique M.; O'Grady, Gina L.; Sandaradura, Sarah A.; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie L.; Nolan, Melinda A.; Kaur, Simranpreet; Punetha, Jaya; Toepf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie A.; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason R.; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne E.; Foley, A. Reghan; Bharucha-Goebel, Diana; Collins, James; Connolly, Anne M.; Gilbreath, Heather R.; Iannaccone, Susan T.; Castro, Diana; Cummings, Beryl B.; Webster, Richard I.; Lazaro, Leila; Vissing, John; Coppens, Sandra; Deconinck, Nicolas; Luk, Ho-Ming; Thomas, Neil H.; Foulds, Nicola C.; Illingworth, Marjorie A.; Ellard, Sian; McLean, Catriona A.; Phadke, Rahul; Ravenscroft, Gianina; Witting, Nanna; Hackman, Peter; Richard, Isabelle; Cooper, Sandra T.; Kamsteeg, Erik-Jan; Hoffman, Eric P.; Bushby, Kate; Straub, Volker; Udd, Bjarne; Ferreiro, Ana; North, Kathryn N.; Clarke, Nigel F.; Lek, Monkol; Beggs, Alan H.; Boennemann, Carsten G.; MacArthur, Daniel G.; Granzier, Henk; Davis, Mark R.; Laing, Nigel G. .png)
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收藏Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trialsDiaz-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 Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization氧化还原酶PYROXD1的变体会导致早发性肌病，并伴有内在化的核和肌原纤维紊乱O'Grady, Gina L.; Best, Heather A.; Sztal, Tamar E.; Schartner, Vanessa; Sanjuan-Vazquez, Tvlyriam; Donkervoort, Sandra; Neto, Osorio Abath; Sutton, Roger Bryan; Ilkovski, Biljana; Romero, Norma Beatriz; Stojkovic, Tanya; Dastgir, Jahannaz; Waddell, Leigh B.; Boland, Anne; Hu, Ying; Williams, Caitlin; Ruparelia, Avnika A.; Maisonobe, Thierry; Peduto, Anthony J.; Reddel, Stephen W.; Lek, Monkol; Tukiainen, Tam; Cummings, Beryl B.; Joshi, Himanshu; Nectoux, Juliette; Brammah, Susan; Deleuze, Jean-Francois; Ing, Viola Oorschot; Ramm, Georg; Ardicli, Didem; Nowak, Kristen J.; Talim, Beril; Topaloglu, Haluk; Laing, Nigel G.; North, Kathryn N.; MacArthur, Daniel G.; Friant, Sylvie; Clarke, Nigel F.; Bryson-Richardson, Robert J.; Bonnemann, Carsten G.; Laporte, Jocelyn; Cooper, Sandra T. 分享 收藏 分享 收藏 分享 收藏 A multi-center, comparative, phase 3 study to determine the efficacy of gadofosveset-enhanced magnetic resonance angiography for evaluation of renal artery diseaseMcGregor, Robert; Vymazal, Josef; Martinez-Lopez, Manuel; Neuwirth, Jiri; Salgado, Perla; Beregi, Jean-Paul; Peduto, Anthony; de la Pena-Almaguer, Erastno; Slater, Greg J.; Shamsi, Kohkan; Parsons, Edward C., Jr. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 
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