Eugenio Mercuri

Research interests

Publications

• Risdiplam in Type 1 Spinal Muscular Atrophy

  New England Journal of Medicine · 2021 · https://doi.org/10.1056/nejmoa2009965

• Duchenne muscular dystrophy

  Nature Reviews Disease Primers · 2021 · https://doi.org/10.1038/s41572-021-00248-3

• Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

  Neurology · 2020 · https://doi.org/10.1212/wnl.0000000000009233

• Muscular dystrophies

  The Lancet · 2019 · https://doi.org/10.1016/s0140-6736(19)32910-1

• Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

  New England Journal of Medicine · 2018 · https://doi.org/10.1056/nejmoa1710504

• Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

  Neuromuscular Disorders · 2017 · https://doi.org/10.1016/j.nmd.2017.11.004

• Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

  New England Journal of Medicine · 2017 · https://doi.org/10.1056/nejmoa1702752

• Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

  Neuromuscular Disorders · 2017 · https://doi.org/10.1016/j.nmd.2017.11.005

• Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

  The Lancet · 2017 · https://doi.org/10.1016/s0140-6736(17)31611-2

• Revised upper limb module for spinal muscular atrophy: Development of a new module

  Muscle & Nerve · 2016 · https://doi.org/10.1002/mus.25430

• Longitudinal effect of eteplirsen versus historical control on ambulation in D uchenne muscular dystrophy

  Annals of Neurology · 2015 · https://doi.org/10.1002/ana.24555

• Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations

  Developmental Medicine & Child Neurology · 2015 · https://doi.org/10.1111/dmcn.12922

• Ataluren treatment of patients with nonsense mutation dystrophinopathy

  Muscle & Nerve · 2014 · https://doi.org/10.1002/mus.24332

• Muscular dystrophies

  The Lancet · 2013 · https://doi.org/10.1016/s0140-6736(12)61897-2

• Childhood spinal muscular atrophy: controversies and challenges

  The Lancet Neurology · 2012 · https://doi.org/10.1016/s1474-4422(12)70061-3

• Spinal muscular atrophy

  Orphanet Journal of Rare Diseases · 2011 · https://doi.org/10.1186/1750-1172-6-71

• The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability

  Neuromuscular Disorders · 2010 · https://doi.org/10.1016/j.nmd.2009.11.014

• Reliability of the North Star Ambulatory Assessment in a multicentric setting

  Neuromuscular Disorders · 2009 · https://doi.org/10.1016/j.nmd.2009.06.368

• Muscle MRI in inherited neuromuscular disorders: Past, present, and future

  Journal of Magnetic Resonance Imaging · 2007 · https://doi.org/10.1002/jmri.20804

• Origin and timing of brain lesions in term infants with neonatal encephalopathy

  The Lancet · 2003 · https://doi.org/10.1016/s0140-6736(03)12658-x

• 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

  The American Journal of Human Genetics · 2001 · https://doi.org/10.1086/324412

• Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

  Annals of Neurology · 2000 · https://doi.org/10.1002/1531-8249(200008)48:2<170::aid-ana6>3.0.co;2-j

• Early Prognostic Indicators of Outcome in Infants With Neonatal Cerebral Infarction: A Clinical, Electroencephalogram, and Magnetic Resonance Imaging Study

  PEDIATRICS · 1999 · https://doi.org/10.1542/peds.103.1.39

• Optimality score for the neurologic examination of the infant at 12 and 18 months of age

  The Journal of Pediatrics · 1999 · https://doi.org/10.1016/s0022-3476(99)70016-8

• Abnormal Magnetic Resonance Signal in the Internal Capsule Predicts Poor Neurodevelopmental Outcome in Infants With Hypoxic-Ischemic Encephalopathy

  PEDIATRICS · 1998 · https://doi.org/10.1542/peds.102.2.323

Current projects

No projects listed.