Eugenio Mercuri
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View article: Personalised Psychological Care in Hospitals: An Organisational Model of Integrated, Patient- and Staff-Centred Services (2019–2024)
Personalised Psychological Care in Hospitals: An Organisational Model of Integrated, Patient- and Staff-Centred Services (2019–2024) Open
Background: Psychological services within hospitals are essential to delivering integrated, patient-centred care, yet in many health systems they remain fragmented, variably organised, or confined to specific medical specialties. The Clini…
View article: Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial
Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial Open
Intrathecal onasemnogene abeparvovec (OAV101 IT) may enable a one-time gene transfer therapy, addressing an unmet need across the broader spinal muscular atrophy (SMA) population. STRENGTH ( NCT05386680 ) was a 52-week, phase 3b, single-ar…
View article: Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies
Cognitive and neurodevelopmental disorders in spinal muscular atrophy type I at the time of disease‐modifying therapies Open
After treatment with new disease‐modifying therapies, cognitive and neurodevelopmental aspects have been observed in individuals with spinal muscular atrophy (SMA). Emerging evidence suggests that children with SMA type 1 may experience co…
View article: Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report Open
Collagen VI is an extracellular matrix component encoded by COL6A1, COL6A2 and COL6A3 genes. Causative variants in these genes are associated with the following collagen VI-related myopathies: severe Ullrich congenital muscular dystrophy (…
View article: Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series
Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series Open
Spinal muscular atrophy type 1 (SMA-1), a disease affecting the lower motor neurons in the anterior horn cells, causes substantial respiratory morbidity and mortality in children. While recent advances in disease modifying treatments (DMTs…
View article: Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation
Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation Open
We described ambulatory Duchenne muscular dystrophy (DMD) progression, across multiple functional measures, via previously established prognostic groups for loss of ambulation (LoA) and health states. Patients closer to vs. farther from Lo…
View article: Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20
Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20 Open
Introduction: Duchenne muscular dystrophy (DMD) is a progressive disorder. This study evaluates upper limb function in DMD patients using the Performance of Upper Limb 2.0 (PUL 2.0) over 36-months. Methods: Data were collected between 2011…
View article: Expressive language and social communication abilities in children with spinal muscular atrophy type 1
Expressive language and social communication abilities in children with spinal muscular atrophy type 1 Open
Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study …
View article: Exploring the natural history of bone mineral density in Duchenne muscular dystrophy: a systematic literature review
Exploring the natural history of bone mineral density in Duchenne muscular dystrophy: a systematic literature review Open
Understanding the natural history of BMD and disease progression relating to bone fragility will help to support clinical trial design to assess and improve bone strength in DMD. To our knowledge, this is the first SLR investigating BMD Z-…
View article: Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy
Single Nucleotide <i>SMN1</i> Variants in a Cohort of Individuals With Spinal Muscular Atrophy Open
The identification of small pathogenic variants in patients with SMA is of paramount importance for enhancing diagnosis and prognosis, deciphering response variations to existing treatments, and designing novel therapies tailored to addres…
View article: Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons Open
Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods T…
View article: Sleep Disorders in Infants and Toddlers with Hypoxic Ischemic Encephalopathy Treated with Therapeutic Hypothermia: A Case–Control Study Using the SDSC
Sleep Disorders in Infants and Toddlers with Hypoxic Ischemic Encephalopathy Treated with Therapeutic Hypothermia: A Case–Control Study Using the SDSC Open
Background and Objectives: Sleep complaints are particularly relevant in the development of children, affecting cognitive development, neuropsychological functioning, and learning abilities. The aims of this study were as follows: (i) to d…
View article: Exploring the Autistic Brain: A Systematic Review of Diffusion Tensor Imaging Studies on Neural Connectivity in Autism Spectrum Disorder
Exploring the Autistic Brain: A Systematic Review of Diffusion Tensor Imaging Studies on Neural Connectivity in Autism Spectrum Disorder Open
Background/Objectives: Autism spectrum disorder (ASD) has been extensively studied through neuroimaging, primarily focusing on grey matter and more in children than in adults. Studies in children and adolescents fail to capture changes tha…
View article: Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy
Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy Open
The advent of disease modifying therapies in spinal muscular atrophy (SMA) has increased life expectancy but also raising new challenges. We aimed to explore the neurobehavioral profile in SMA type I subjects and in those identified by new…
View article: Neural Pathways of Visual Face Recognition Immediately After Birth
Neural Pathways of Visual Face Recognition Immediately After Birth Open
The present study aimed to investigate the electrophysiological correlates of face-identity recognition in newborn infants immediately after birth. Electroencephalographic acquisition was continuously recorded in 23 newborn infants (3 < ag…
View article: Cognitive, Behavioral, and Learning Profiles of Children with Above-Average Cognitive Functioning: Insights from an Italian Clinical Sample
Cognitive, Behavioral, and Learning Profiles of Children with Above-Average Cognitive Functioning: Insights from an Italian Clinical Sample Open
Background/Objectives: Children with above-average cognitive functioning often present complex developmental profiles, combining high cognitive potential with heterogeneous socio-emotional and learning trajectories. Although the cognitive …
View article: Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy
Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy Open
The North Star Ambulatory Assessment (NSAA) is a widely used functional endpoint in drug development for ambulatory patients with Duchenne muscular dystrophy (DMD). Accurately predicting NSAA total score trajectories is important for desig…
View article: Longitudinal Assessment of 4‐Year <scp>HFMSE</scp> Changes in <scp>SMA II</scp> and <scp>III</scp> Patients Treated With Nusinersen
Longitudinal Assessment of 4‐Year <span>HFMSE</span> Changes in <span>SMA II</span> and <span>III</span> Patients Treated With Nusinersen Open
Background The aim of this international retrospective study was to assess 4‐year change using the Hammersmith Functional Motor Scale Expanded (HFMSE) in individuals with type II and III spinal muscular atrophy (SMA) treated with nusinerse…
View article: Identification and treatment of neurodevelopmental and mental disorders in boys and adults with Duchenne muscular dystrophy: a cohort study
Identification and treatment of neurodevelopmental and mental disorders in boys and adults with Duchenne muscular dystrophy: a cohort study Open
Background Over the last few years, there has been increasing attention to the involvement of the central nervous system in Duchenne muscular dystrophy (DMD). The aim of this study was to assess the spectrum of neurodevelopmental and menta…
View article: Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen
Bulbar function in children with spinal muscular atrophy type 1 treated with nusinersen Open
Aim To describe bulbar function trajectories in patients with spinal muscular atrophy (SMA) type 1 treated with nusinersen in the UK and Italy. Method In two previously reported, retrospective, observational cohort studies, we observed the…
View article: Construct Validity and Internal Consistency of the Italian Version of the PedsQLTM 4.0 Generic Core Scale and PedsQLTM 3.0 Cerebral Palsy Module
Construct Validity and Internal Consistency of the Italian Version of the PedsQLTM 4.0 Generic Core Scale and PedsQLTM 3.0 Cerebral Palsy Module Open
Background: Health-related quality of life (HRQoL) has emerged as a meaningful outcome measure in clinical trials and healthcare interventions in children with cerebral palsy (CwCP). We assessed the construct validity and internal consiste…
View article: Myostatin Levels in <scp>SMA</scp> Following Disease‐Modifying Treatments: A Multi‐Center Study
Myostatin Levels in <span>SMA</span> Following Disease‐Modifying Treatments: A Multi‐Center Study Open
Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional…
View article: Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy
Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy Open
Importance Delandistrogene moxeparvovec is a recombinant adeno-associated virus rhesus isolate serotype 74 vector-based gene transfer therapy for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed pathogenic va…
View article: Current Standards and Future Directions of Duchenne Muscular Dystrophy Respiratory Care: The PPMD Italy Meeting Report
Current Standards and Future Directions of Duchenne Muscular Dystrophy Respiratory Care: The PPMD Italy Meeting Report Open
Objective This report summarizes key discussions from the meeting “Current Standards and Future Directions of Respiratory Assessment and Management of Duchenne Muscular Dystrophy (DMD),” organized by Parent Project Muscular Dystrophy (PPMD…
View article: Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI
Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI Open
Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic de…