| 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 | 2190 | 2017 |
| 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 | 1363 | 2018 |
| 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 | 1001 | 2018 |
| Duchenne muscular dystrophy D Duan, N Goemans, S Takeda, E Mercuri, A Aartsma-Rus Nature Reviews Disease Primers 7 (1), 13, 2021 | 879 | 2021 |
| Origin and timing of brain lesions in term infants with neonatal encephalopathy F Cowan, M Rutherford, F Groenendaal, P Eken, E Mercuri, GM Bydder, ... The Lancet 361 (9359), 736-742, 2003 | 774 | 2003 |
| Spinal muscular atrophy A D'Amico, E Mercuri, FD Tiziano, E Bertini Orphanet journal of rare diseases 6, 1-10, 2011 | 707 | 2011 |
| Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan M Brockington, DJ Blake, P Prandini, SC Brown, S Torelli, MA Benson, ... The American Journal of Human Genetics 69 (6), 1198-1209, 2001 | 680 | 2001 |
| 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 | 673 | 2018 |
| The neurological assessment of the preterm and full-term newborn infant LMS Dubowitz, V Dubowitz, E Mercuri Cambridge University Press, 1999 | 640 | 1999 |
| Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene G Bonne, E Mercuri, A Muchir, A Urtizberea, HM Becane, D Recan, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 574 | 2000 |
| Muscular dystrophies E Mercuri, F Muntoni The Lancet 381 (9869), 845-860, 2013 | 544 | 2013 |
| Longitudinal effect of eteplirsen versus historical control on ambulation in D uchenne muscular dystrophy JR Mendell, N Goemans, LP Lowes, LN Alfano, K Berry, J Shao, EM Kaye, ... Annals of neurology 79 (2), 257-271, 2016 | 536 | 2016 |
| 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 | 520 | 2014 |
| Childhood spinal muscular atrophy: controversies and challenges E Mercuri, E Bertini, ST Iannaccone The Lancet Neurology 11 (5), 443-452, 2012 | 508 | 2012 |
| Abnormal magnetic resonance signal in the internal capsule predicts poor neurodevelopmental outcome in infants with hypoxic-ischemic encephalopathy MA Rutherford, JM Pennock, SJ Counsell, E Mercuri, FM Cowan, ... Pediatrics 102 (2), 323-328, 1998 | 480 | 1998 |
| Muscle MRI in inherited neuromuscular disorders: past, present, and future E Mercuri, A Pichiecchio, J Allsop, S Messina, M Pane, F Muntoni Journal of Magnetic Resonance Imaging: An Official Journal of the …, 2007 | 475 | 2007 |
| 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 | 471 | 2017 |
| 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 | 465 | 2007 |
| Muscular dystrophies E Mercuri, CG Bönnemann, F Muntoni The Lancet 394 (10213), 2025-2038, 2019 | 430 | 2019 |
| Optimality score for the neurologic examination of the infant at 12 and 18 months of age L Haataja, E Mercuri, R Regev, F Cowan, M Rutherford, V Dubowitz, ... The Journal of pediatrics 135 (2), 153-161, 1999 | 414 | 1999 |
