| Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management K Bushby, R Finkel, DJ Birnkrant, LE Case, PR Clemens, L Cripe, A Kaul, ... The Lancet Neurology 9 (1), 77-93, 2010 | 2413 | 2010 |
| 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 | 1978 | 2017 |
| Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care K Bushby, R Finkel, DJ Birnkrant, LE Case, PR Clemens, L Cripe, A Kaul, ... The Lancet Neurology 9 (2), 177-189, 2010 | 1389 | 2010 |
| 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 | 1234 | 2018 |
| Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study RS Finkel, CA Chiriboga, J Vajsar, JW Day, J Montes, DC De Vivo, ... The Lancet 388 (10063), 3017-3026, 2016 | 1017 | 2016 |
| Consensus statement for standard of care in spinal muscular atrophy CH Wang, RS Finkel, ES Bertini, M Schroth, A Simonds, B Wong, ... Journal of child neurology 22 (8), 1027-1049, 2007 | 945 | 2007 |
| Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ... Neuromuscular disorders 28 (2), 103-115, 2018 | 880 | 2018 |
| Agalsidase-beta therapy for advanced Fabry disease: a randomized trial M Banikazemi, J Bultas, S Waldek, WR Wilcox, CB Whitley, M McDonald, ... Annals of internal medicine 146 (2), 77-86, 2007 | 722 | 2007 |
| Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics RS Finkel, E Mercuri, OH Meyer, AK Simonds, MK Schroth, RJ Graham, ... Neuromuscular Disorders 28 (3), 197-207, 2018 | 606 | 2018 |
| 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 |
| Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study D De Vivo, E Bertini, K Swoboda, WL Hwu, T Crawford, R Finkel, ... Neuromuscular Disorders 29 (11), 2019 | 512 | 2019 |
| Ataluren treatment of patients with nonsense mutation dystrophinopathy K Bushby, R Finkel, B Wong, R Barohn, C Campbell, GP Comi, ... Muscle & nerve 50 (4), 477-487, 2014 | 503 | 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 |
| Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort KM Flanigan, DM Dunn, A Von Niederhausern, P Soltanzadeh, ... Human mutation 30 (12), 1657-1666, 2009 | 366 | 2009 |
| 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 |
| CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis V Fridman, B Bundy, MM Reilly, D Pareyson, C Bacon, J Burns, J Day, ... Journal of Neurology, Neurosurgery & Psychiatry 86 (8), 873-878, 2015 | 332 | 2015 |
| The Children’s Hospital of Philadelphia infant test of neuromuscular disorders (CHOP INTEND): test development and reliability AM Glanzman, E Mazzone, M Main, M Pelliccioni, J Wood, KJ Swoboda, ... Neuromuscular Disorders 20 (3), 155-161, 2010 | 323 | 2010 |
| 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 | 303 | 2021 |
| Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy RS Finkel, KM Flanigan, B Wong, C Bönnemann, J Sampson, ... PloS one 8 (12), e81302, 2013 | 280 | 2013 |
