| Nusinersen versus sham control in infantile-onset spinal muscular atrophy RS Finkel, E Mercuri, BT Darras, AM Connolly, NL Kuntz, J Kirschner, ... New England Journal of Medicine 377 (18), 1723-1732, 2017 | 1979 | 2017 |
| The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion M Koenig, AH Beggs, M Moyer, S Scherpf, K Heindrich, T Bettecken, ... American journal of human genetics 45 (4), 498, 1989 | 1281 | 1989 |
| Nusinersen versus sham control in later-onset spinal muscular atrophy E Mercuri, BT Darras, CA Chiriboga, JW Day, C Campbell, AM Connolly, ... New England Journal of Medicine 378 (7), 625-635, 2018 | 1236 | 2018 |
| Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy CA Chiriboga, KJ Swoboda, BT Darras, ST Iannaccone, J Montes, ... Neurology 86 (10), 890-897, 2016 | 656 | 2016 |
| Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy LM Kunkel, co-authors Nature 322 (6074), 73-77, 1986 | 582 | 1986 |
| Observational study of spinal muscular atrophy type I and implications for clinical trials RS Finkel, MP McDermott, P Kaufmann, BT Darras, WK Chung, ... Neurology 83 (9), 810-817, 2014 | 548 | 2014 |
| Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ... The Lancet 390 (10101), 1489-1498, 2017 | 445 | 2017 |
| Dystrophinopathies BT Darras, CC Menache-Starobinski, V Hinton, LM Kunkel Neuromuscular disorders of Infancy, childhood, and adolescence, 551-592, 2015 | 381* | 2015 |
| Natural history of infantile‐onset spinal muscular atrophy SJ Kolb, CS Coffey, JW Yankey, K Krosschell, WD Arnold, SB Rutkove, ... Annals of neurology 82 (6), 883-891, 2017 | 338 | 2017 |
| Volpe's Neurology of the Newborn JJ Volpe, TE Inder, BT Darras, LS de Vries, AJ Du Plessis, J Neil, ... Elsevier Health Sciences, 2017 | 327 | 2017 |
| An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients JM O’Hagen, AM Glanzman, MP McDermott, PA Ryan, J Flickinger, ... Neuromuscular Disorders 17 (9-10), 693-697, 2007 | 306 | 2007 |
| Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm … JW Day, RS Finkel, CA Chiriboga, AM Connolly, TO Crawford, BT Darras, ... The Lancet Neurology 20 (4), 284-293, 2021 | 304 | 2021 |
| Risdiplam in type 1 spinal muscular atrophy G Baranello, BT Darras, JW Day, N Deconinck, A Klein, R Masson, ... New England Journal of Medicine 384 (10), 915-923, 2021 | 298 | 2021 |
| Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin–binding protein, cofilin-2 PB Agrawal, RS Greenleaf, KK Tomczak, VL Lehtokari, ... The American Journal of Human Genetics 80 (1), 162-167, 2007 | 266 | 2007 |
| Spinal muscular atrophies BT Darras, JA Markowitz, UR Monani, C Darryl Neuromuscular disorders of infancy, childhood, and adolescence, 117-145, 2015 | 258 | 2015 |
| Prospective cohort study of spinal muscular atrophy types 2 and 3 P Kaufmann, MP McDermott, BT Darras, RS Finkel, DM Sproule, PB Kang, ... Neurology 79 (18), 1889-1897, 2012 | 251 | 2012 |
| Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies BT Darras, CA Chiriboga, ST Iannaccone, KJ Swoboda, J Montes, ... Neurology 92 (21), e2492-e2506, 2019 | 238 | 2019 |
| Revised upper limb module for spinal muscular atrophy: development of a new module ES Mazzone, A Mayhew, J Montes, D Ramsey, L Fanelli, SD Young, ... Muscle & nerve 55 (6), 869-874, 2017 | 235 | 2017 |
| Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening J Glascock, J Sampson, A Haidet-Phillips, A Connolly, B Darras, J Day, ... Journal of neuromuscular diseases 5 (2), 145-158, 2018 | 222 | 2018 |
| Spinal muscular atrophy: a clinical and research update JA Markowitz, P Singh, BT Darras Pediatric neurology 46 (1), 1-12, 2012 | 222 | 2012 |
