Richard S Finkel
Richard S Finkel
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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
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
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
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
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
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
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
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
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
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
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
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
C Darryl, E Bertini, KJ Swoboda, WL Hwu, TO Crawford, RS Finkel, ...
Neuromuscular Disorders 29 (11), 842-856, 2019
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
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
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
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
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
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
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
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
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