| Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2 … S Cirak, V Arechavala-Gomeza, M Guglieri, L Feng, S Torelli, K Anthony, ... The Lancet 378 (9791), 595-605, 2011 | 1159 | 2011 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 893 | 2017 |
| Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies DE Michele, R Barresi, M Kanagawa, F Saito, RD Cohn, JS Satz, J Dollar, ... Nature 418 (6896), 417-421, 2002 | 884 | 2002 |
| Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of … M Kinali, V Arechavala-Gomeza, L Feng, S Cirak, D Hunt, C Adkin, ... The Lancet Neurology 8 (10), 918-928, 2009 | 881 | 2009 |
| Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 A Yoshida, K Kobayashi, H Manya, K Taniguchi, H Kano, M Mizuno, ... Developmental cell 1 (5), 717-724, 2001 | 857 | 2001 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 813 | 2017 |
| The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ... Human mutation 36 (4), 395-402, 2015 | 715 | 2015 |
| Improving genetic diagnosis in Mendelian disease with transcriptome sequencing BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ... Science translational medicine 9 (386), eaal5209, 2017 | 666 | 2017 |
| A phase I/IItrial of MYO‐029 in adult subjects with muscular dystrophy KR Wagner, JL Fleckenstein, AA Amato, RJ Barohn, K Bushby, ... Annals of neurology 63 (5), 561-571, 2008 | 614 | 2008 |
| Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population FLM Norwood, C Harling, PF Chinnery, M Eagle, K Bushby, V Straub Brain 132 (11), 3175-3186, 2009 | 603 | 2009 |
| Animal models for muscular dystrophy show different patterns of sarcolemmal disruption V Straub, JA Rafael, JS Chamberlain, KP Campbell The Journal of cell biology 139 (2), 375-385, 1997 | 591 | 1997 |
| Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C M Brockington, Y Yuva, P Prandini, SC Brown, S Torelli, MA Benson, ... Human molecular genetics 10 (25), 2851-2859, 2001 | 579 | 2001 |
| Muscular dystrophies and the dystrophin-glycoprotein complex V Straub, KP Campbell Current opinion in neurology 10, 168-175, 1997 | 518 | 1997 |
| Disruption of the sarcoglycan–sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy R Coral-Vazquez, RD Cohn, SA Moore, JA Hill, RM Weiss, RL Davisson, ... Cell 98 (4), 465-474, 1999 | 460 | 1999 |
| Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan C Godfrey, E Clement, R Mein, M Brockington, J Smith, B Talim, V Straub, ... Brain 130 (10), 2725-2735, 2007 | 457 | 2007 |
| Progressive muscular dystrophy in α-sarcoglycan–deficient mice F Duclos, V Straub, SA Moore, DP Venzke, RF Hrstka, RH Crosbie, ... The Journal of cell biology 142 (6), 1461-1471, 1998 | 426 | 1998 |
| Managing Duchenne muscular dystrophy–the additive effect of spinal surgery and home nocturnal ventilation in improving survival M Eagle, J Bourke, R Bullock, M Gibson, J Mehta, D Giddings, V Straub, ... Neuromuscular disorders 17 (6), 470-475, 2007 | 410 | 2007 |
| Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology … A Ferreiro, S Quijano-Roy, C Pichereau, B Moghadaszadeh, N Goemans, ... The American Journal of Human Genetics 71 (4), 739-749, 2002 | 397 | 2002 |
| Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study T Voit, H Topaloglu, V Straub, F Muntoni, N Deconinck, G Campion, ... The Lancet Neurology 13 (10), 987-996, 2014 | 374 | 2014 |
| 229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 V Straub, A Murphy, B Udd, A Corrado, S Aymé, C Bönneman, ... Neuromuscular Disorders 28 (8), 702-710, 2018 | 319 | 2018 |
