List of works by Eugenio Mercuri

218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016.

scientific article published on 2 March 2017

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

scientific article published on 8 January 2014

6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction.

scientific article published on 14 July 2017

A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in

scientific article published on 19 February 2018

A current approach to heart failure in Duchenne muscular dystrophy

scientific article published on July 2017

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance

scientific article

A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results

scientific article

A prospective longitudinal study on visuo-cognitive development in Dravet syndrome: Is there a "dorsal stream vulnerability"?

scientific article published on 28 October 2014

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy

scientific article published in December 2017

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

scientific article published on 26 June 2018

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials

scientific article published on 01 September 2019

An observational study of functional abilities in infants, children, and adults with type 1 SMA

scientific article published on 25 July 2018

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy

scientific article published on 06 March 2019

Antepartum and intrapartum factors preceding neonatal hypoxic-ischemic encephalopathy.

scientific article published on 9 September 2013

Are high cumulative doses of erythropoietin neuroprotective in preterm infants? A two year follow-up report.

scientific article

Assessing Joint Hypermobility in Preschool-Aged Children.

scientific article

Behavioral Profile in RASopathies

scientific article published on 23 January 2014

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. ⬇️

scientific article published on 17 July 2015

Brain morphometry of preschool age children affected by autism spectrum disorder: Correlation with clinical findings

scientific article published on 01 January 2019

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Calf muscle involvement in Becker muscular dystrophy: when size does not matter

scientific article published on 22 October 2014

Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?

scientific article published on 24 December 2014

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

scientific article published on 27 May 2016

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

scientific article published on 8 February 2013

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

article

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy.

scientific article published on 10 October 2017

Clinical variability in spinal muscular atrophy type III

scientific article published on 14 September 2020

Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation.

scientific article published on 30 July 2014

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016

Cognitive decline in Dravet syndrome: is there a cerebellar role?

scientific article published on 30 April 2013

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

scientific article published on 6 December 2017

Cognitive-behavioral profiles in teenagers with Dravet syndrome.

scientific article published on 18 January 2016

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

scientific article

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

scientific article published on 26 October 2018

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

scientific article published on 4 December 2015

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

scientific article published on 31 July 2019

Corrigendum to "Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy" [Neuromuscular Disorders 26/9 (2016) 576-583].

scientific article published on 8 March 2017

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

scientific article published on October 2012

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

scientific article published on 10 August 2017

Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM.

scientific article published on 26 September 2016

Development of an academic disease registry for spinal muscular atrophy

scientific article published on 29 August 2019

Developmental milestones in type I spinal muscular atrophy

scientific article published on 5 October 2016

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

scientific article

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

scientific article published on 14 February 2017

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

scientific article published on 23 March 2020

Disorders of early language development in Dravet syndrome

scientific article published on 26 November 2015

Does albuterol have an effect on neuromuscular junction dysfunction in spinal muscular atrophy?

scientific article published on 04 August 2018

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype.

scientific article published on 16 August 2016

Duchenne muscular dystrophy and epilepsy.

scientific article published on 7 March 2013

Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study

scientific article published on 14 August 2015

Early involvement of the supinator muscle in Duchenne muscular dystrophy.

scientific article published on 4 October 2017

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

scientific article published on 25 March 2013

Effects of Lycra suits in children with cerebral palsy

scientific article published on 03 May 2018

Efficacy of idebenone in Duchenne muscular dystrophy.

scientific article published on 20 April 2015

Evaluator Training and Reliability for SMA Global Nusinersen Trials1.

scientific article

Evidence-based care in Duchenne muscular dystrophy

scientific article published on 01 May 2018

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

scientific article published on 21 September 2017

Follow-up to Age 4 Years of Treatment of Type 1 Retinopathy of Prematurity Intravitreal Bevacizumab Injection versus Laser: Fluorescein Angiographic Findings

scientific article

Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy.

scientific article published on 20 June 2018

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

scientific article published on 28 April 2020

Genetic therapies for inherited neuromuscular disorders

scientific article published on 27 June 2018

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

scientific article published on 16 January 2014

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.

scientific article

Histological effects of givinostat in boys with Duchenne muscular dystrophy

scientific article published on 11 July 2016

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

scientific article published on 16 January 2018

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

scientific article published on 05 March 2020

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

scientific article published on 30 September 2015

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

scientific article published on 15 November 2018

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

scientific article published on 09 July 2014

Joint Laxity in Preschool Children Born Preterm.

scientific article published on 9 April 2018

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

scientific article published on October 2014

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

scientific article

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

scientific article published on 25 June 2019

Long-term progression in type II spinal muscular atrophy: A retrospective observational study

scientific article published on 26 August 2019

Longitudinal assessment of perceptual-motor abilities in pre-school preterm children

scientific article published on 29 August 2014

Longitudinal assessments in discordant twins with SMA.

scientific article published on 8 July 2017

Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy

scientific article published on 17 November 2015

Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol

scientific article published on 28 December 2018

MRI in sarcoglycanopathies: a large international cohort study.

scientific article published on 9 September 2017

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

scientific article published on 27 November 2019

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

Meeting report of the "Regulatory Exchange Matters" session at the 5th International TREAT-NMD Conference:: Lessons in communication: How an early dialogue between patients, regulators and academics can further therapy development for neuromuscular

scientific article published on 20 April 2018

Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy.

scientific article published on 19 January 2018

Muscular dystrophies

scientific article published on 01 March 2013

Muscular dystrophy: new challenges and review of the current clinical trials.

scientific article published on December 2013

Natural history of pulmonary function in collagen VI-related myopathies

scientific article

Neonatal hypotonia and neuromuscular conditions

scientific article published on 01 January 2019

Neonatal neurological examination during the first 6h after birth.

scientific article published on 5 April 2017

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

scientific article published on 14 September 2015

Neurofilament as a potential biomarker for spinal muscular atrophy

scientific article published on 17 April 2019

Neurological assessment of late-preterm infants during the first year of age

scientific article published on 01 July 2018

Neuromuscular disorders: 2017, a year to remember

scientific article published on 16 December 2017

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

scientific article

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

scientific article

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

scientific article

Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy

scientific article published on 27 July 2019

Nusinersen in type 0 spinal muscular atrophy: should we treat?

scientific article published on 04 November 2020

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

scientific article published on 01 June 2018

Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data

scientific article published on 08 July 2019

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

scientific article published in November 2017

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

scientific article published in February 2018

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.

scientific article published on 3 December 2015

Perceptual-motor abilities in pre-school preterm children.

scientific article published on 17 July 2013

Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study

scientific article published in 2022

Prognostic value of the qualitative assessments of general movements in late-preterm infants.

scientific article published in September 2013

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function

scientific article published on 01 July 2018

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

scientific article published on 23 May 2017

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

scientific article

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.

scientific article

Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy

scientific article published on 22 March 2019

Responsiveness of the MD-childhood rating scale in dyskinetic cerebral palsy patients undergoing anticholinergic treatment

scientific article published on 19 June 2014

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

scientific article

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

scientific article

Revised upper limb module for spinal muscular atrophy: 12 month changes

scientific article published on 07 February 2019

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

scientific article

Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy

scientific article published on 24 November 2020

Risk Factors for Neonatal Arterial Ischemic Stroke: The Importance of the Intrapartum Period.

scientific article published on 2 April 2016

SMA-EUROPE workshop report: Opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe.

scientific article published on 20 March 2013

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.

scientific article

Sex differences in cerebral palsy on neuromotor outcome: a critical review.

scientific article published on 21 April 2016

Sleep disorders in children with cerebral palsy: neurodevelopmental and behavioral correlates.

scientific article published on 13 December 2013

Sleep disorders in spinal muscular atrophy.

scientific article

Sleep disturbances in preschool age children with cerebral palsy: a questionnaire study.

scientific article

Sleep-potentiated epileptiform activity in early thalamic injuries: Study in a large series (60 cases).

scientific article published on 28 October 2014

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

scientific article published on 3 April 2015

Stakeholder collaboration for spinal muscular atrophy therapy development

scientific article published on 01 April 2017

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

scientific article published on July 2016

Stem cells in severe infantile spinal muscular atrophy

scientific article published on 01 December 2012

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

scientific article published on 6 October 2014

Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

scientific article

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

scientific article published on 7 October 2014

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

scientific article published on 2 March 2015

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

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 with spinal muscular atrophy

scientific article published on 30 October 2018

Therapeutic approaches for spinal muscular atrophy (SMA).

scientific article published on 31 May 2017

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

scientific article

Upper girdle imaging in facioscapulohumeral muscular dystrophy

scientific article

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.

scientific article published on 20 June 2018

Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes.

scientific article published on 22 November 2014

Use of the Hammersmith Infant Neurological Examination in infants with cerebral palsy: a critical review of the literature.

scientific article published on 25 August 2015

Value of structured reporting in neuromuscular disorders

scientific article published on 09 March 2019

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