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Eugenio Mercuri
Eugenio Mercuri
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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
19782017
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
12342018
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
8802018
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
7492003
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
6662001
Spinal muscular atrophy
A D'Amico, E Mercuri, FD Tiziano, E Bertini
Orphanet journal of rare diseases 6, 1-10, 2011
6412011
The neurological assessment of the preterm and full-term newborn infant
LMS Dubowitz, V Dubowitz, E Mercuri
Cambridge University Press, 1999
6351999
Duchenne muscular dystrophy
D Duan, N Goemans, S Takeda, E Mercuri, A Aartsma-Rus
Nature Reviews Disease Primers 7 (1), 13, 2021
6312021
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
6062018
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
5592000
Muscular dystrophies
E Mercuri, F Muntoni
The Lancet 381 (9869), 845-860, 2013
5122013
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
5082016
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
5032014
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
4661998
Childhood spinal muscular atrophy: controversies and challenges
E Mercuri, E Bertini, ST Iannaccone
The Lancet Neurology 11 (5), 443-452, 2012
4582012
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
4552007
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
4552007
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
4452017
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
3921999
Muscular dystrophies
E Mercuri, CG Bönnemann, F Muntoni
The Lancet 394 (10213), 2025-2038, 2019
3532019
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Artikelen 1–20