about
Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.Upper girdle imaging in facioscapulohumeral muscular dystrophy.Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyThe 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boysEarly Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study.Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.Are high cumulative doses of erythropoietin neuroprotective in preterm infants? A two year follow-up report.Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortClinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Natural history of pulmonary function in collagen VI-related myopathiesMuscular dystrophy: new challenges and review of the current clinical trials.Use of the Hammersmith Infant Neurological Examination in infants with cerebral palsy: a critical review of the literature.6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction.Developmental milestones in type I spinal muscular atrophy.Sex differences in cerebral palsy on neuromotor outcome: a critical review.Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM.Revised upper limb module for spinal muscular atrophy: Development of a new module.Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.Therapeutic approaches for spinal muscular atrophy (SMA).A current approach to heart failure in Duchenne muscular dystrophy.Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.Risk Factors for Neonatal Arterial Ischemic Stroke: The Importance of the Intrapartum Period.Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.Follow-up to Age 4 Years of Treatment of Type 1 Retinopathy of Prematurity Intravitreal Bevacizumab Injection versus Laser: Fluorescein Angiographic Findings.Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy.Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test.Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
P50
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description
researcher (ORCID 0000-0002-9851-5365)
@en
wetenschapper
@nl
name
Eugenio Mercuri
@en
Eugenio Mercuri
@nl
type
label
Eugenio Mercuri
@en
Eugenio Mercuri
@nl
prefLabel
Eugenio Mercuri
@en
Eugenio Mercuri
@nl
P31
P496
0000-0002-9851-5365