Articles with public access mandates - Eugenio MercuriLearn more
Not available anywhere: 30
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy
E Mazzone, D Martinelli, A Berardinelli, S Messina, A D’Amico, G Vasco, ...
Neuromuscular Disorders 20 (11), 712-716, 2010
Mandates: Fondazione Telethon, Italy
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
E Mercuri, F Muntoni, G Baranello, R Masson, O Boespflug-Tanguy, ...
The Lancet Neurology 20 (10), 832-841, 2021
Mandates: National Institute for Health Research, UK
Spinal muscular atrophy
E Mercuri, CJ Sumner, F Muntoni, BT Darras, RS Finkel
Nature Reviews Disease Primers 8 (1), 52, 2022
Mandates: US National Institutes of Health
DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy
R Barone, C Aiello, V Race, E Morava, F Foulquier, M Riemersma, ...
Annals of neurology 72 (4), 550-558, 2012
Mandates: Research Foundation (Flanders)
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled …
E Mercuri, N Deconinck, ES Mazzone, A Nascimento, M Oskoui, K Saito, ...
The Lancet Neurology 21 (1), 42-52, 2022
Mandates: National Institute for Health Research, UK, Government of Spain
The ever‐expanding spectrum of congenital muscular dystrophies
E Mercuri, F Muntoni
Annals of neurology 72 (1), 9-17, 2012
Mandates: Fondazione Telethon, Italy
Early neurodevelopmental assessment in Duchenne muscular dystrophy
M Pane, R Scalise, A Berardinelli, G D’Angelo, V Ricotti, P Alfieri, I Moroni, ...
Neuromuscular Disorders 23 (6), 451-455, 2013
Mandates: Fondazione Telethon, Italy, UK Medical Research Council
SEPN1-related myopathies: Clinical course in a large cohort of patients
M Scoto, S Cirak, R Mein, L Feng, AY Manzur, S Robb, AM Childs, ...
Neurology 76 (24), 2073-2078, 2011
Mandates: US National Institutes of Health
Muscular dystrophy: new challenges and review of the current clinical trials
E Mercuri, F Muntoni
Current opinion in pediatrics 25 (6), 701-707, 2013
Mandates: US National Institutes of Health, Fondazione Telethon, Italy, British Heart …
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy
R De Sanctis, M Pane, G Coratti, C Palermo, D Leone, MC Pera, E Abiusi, ...
Neuromuscular Disorders 28 (1), 24-28, 2018
Mandates: Fondazione Telethon, Italy
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
F Fattori, L Maggi, C Bruno, D Cassandrini, V Codemo, M Catteruccia, ...
Journal of neurology 262, 1728-1740, 2015
Mandates: Fondazione Telethon, Italy
Intragenic KANSL1 mutations and chromosome 17q21. 31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients
M Zollino, G Marangi, E Ponzi, D Orteschi, S Ricciardi, S Lattante, ...
Journal of medical genetics 52 (12), 804-814, 2015
Mandates: Government of Italy
The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients …
H Kletzl, A Marquet, A Günther, W Tang, J Heuberger, GJ Groeneveld, ...
Neuromuscular Disorders 29 (1), 21-29, 2019
Mandates: UK Medical Research Council
Development of an academic disease registry for spinal muscular atrophy
E Mercuri, R Finkel, MC Scoto, S Hall, S Eaton, A Rashid, J Balashkina, ...
Neuromuscular Disorders 29 (10), 794-799, 2019
Mandates: Fondazione Telethon, Italy, National Institute for Health Research, UK
Age related treatment effect in type II spinal muscular atrophy pediatric patients treated with nusinersen
G Coratti, M Pane, S Lucibello, MC Pera, A Pasternak, J Montes, ...
Neuromuscular Disorders 31 (7), 596-602, 2021
Mandates: National Institute for Health Research, UK
Congenital muscular dystrophies with cognitive impairment: a population study
S Messina, C Bruno, I Moroni, E Pegoraro, A D'Amico, R Biancheri, ...
Neurology 75 (10), 898-903, 2010
Mandates: Fondazione Telethon, Italy
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade
P Alfieri, L Cesarini, M Mallardi, G Piccini, C Caciolo, C Leoni, N Mirante, ...
Behavior genetics 41, 423-429, 2011
Mandates: Fondazione Telethon, Italy
Quantitative evaluation of lower extremity joint contractures in spinal muscular atrophy: implications for motor function
R Salazar, J Montes, SD Young, MP McDermott, W Martens, A Pasternak, ...
Pediatric Physical Therapy 30 (3), 209-215, 2018
Mandates: UK Medical Research Council, National Institute for Health Research, UK
Longitudinal natural history in young boys with Duchenne muscular dystrophy
G Coratti, C Brogna, G Norcia, V Ricotti, L Abbott, A D'Amico, ...
Neuromuscular Disorders 29 (11), 857-862, 2019
Mandates: Fondazione Telethon, Italy, National Institute for Health Research, UK
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
G Coratti, MC Pera, J Montes, M Scoto, A Pasternak, F Bovis, M Sframeli, ...
Neuromuscular Disorders 32 (1), 36-42, 2022
Mandates: Fondazione Telethon, Italy, National Institute for Health Research, UK
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