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Ayers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jørgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; [...]Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsView onlineSchließen
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Published in: Nature Communications
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Campbell, Craig; Barohn, Richard J; Bertini, Enrico; Chabrol, Brigitte; Comi, Giacomo Pietro; Darras, Basil T; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Iannaccone, Susan T; Jones, Kristi J; Kirschner, Janbernd; Mah, Jean K; Mathews, Katherine D; McDonald, Craig M; Mercuri, Eugenio; Nevo, Yoram; Péréon, Yann; Renfroe, J Ben; Ryan, Monique M; Sampson, Jacinda B; Schara, Ulrike; Sejersen, Thomas; Selby, Kathryn; [...]Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophyView onlineSchließen
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Published in: Journal of Comparative Effectiveness Research
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Shieh, Perry B; Elfring, Gary; Trifillis, Panayiota; Santos, Claudio; Peltz, Stuart W; Parsons, Julie A; Apkon, Susan; Darras, Basil T; Campbell, Craig; McDonald, Craig M; Barohn, Richard J; Bertini, Enrico; Bushby, Kate; Chabrol, Brigitte; Ciafaloni, Emma; Columer, Jaume; Comi, Giacomi Pietro; Connolly, Anne; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Guglieri, Michela; Iannaccone, Susan T; Jones, Kristi J; [...]Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophyView onlineSchließen
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Published in: Journal of Comparative Effectiveness Research
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Thangarajh, Mathula; Elfring, Gary L.; Trifillis, Panayiota; McIntosh, Joseph; Peltz, Stuart W.; Ryan, Monique M.; Kornberg, Andrew J; RodriguezCasero, Victoria; Wray, Alison; Jones, Kristi J.; North, Kathryn; Goemans, Nathalie; Buyse, Gunnar Marceo; Campbell, Craig; Mah, Jean; Sarnat, Harvey; Selby, Kathryn; Voit, Thomas; Doppler, Valerie; De Castro, Denis; Chabrol, Brigitte; Levy, Nicolas; Halbert, Cecile; Pereon, Yann; [...]The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophyView onlineSchließen
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Published in: Neurology
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Tepe, Burak; Macke, Erica L.; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A.; Schaefer, G. Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J.; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J.; Pais, Lynn S.; Neil, Jennifer E.; Mochida, Ganeshwaran H.; Walsh, Christopher A.; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; [...]Bi-allelic variants in INTS11 are associated with a complex neurological disorderView onlineSchließen
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Published in: The American Journal of Human Genetics
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Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Abou Jamra, Rami; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna C E; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; [...]Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeView onlineSchließen
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Published in: Brain
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De Benedetti, F.; Anton, J.; Gattorno, M.; Lachmann, H.; Kone-Paut, I.; Ozen, S.; Frenkel, J.; Simon, A.; Zeft, A.; Ben-Chetrit, E.; Hoffman, H. M.; Joubert, Y.; Lheritier, K.; Speziale, A.; Guido, J.; Caorsi, Roberta; Penco, Federica; Grossi, Alice; Insalaco, Antonella; Alessio, Maria; Conti, Giovanni; Marchetti, Federico; Tommasini, Alberto; Martino, Silvana; [...]Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one : Genoa, Italy. 28 September–01 October 2016View onlineSchließen
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Published in: Pediatric Rheumatology