Chiara Marini‐Bettolo
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View article: Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data
Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data Open
There is growing evidence on safety and efficacy of exercise in neuromuscular diseases. We sought to establish the levels of exercise exposure for people living with NMD and its association with mobility levels and pain. A standardized que…
View article: Disease spectrum and long-term prognosis of patients with <i>BAG3</i> -associated neuromuscular diseases in Europe
Disease spectrum and long-term prognosis of patients with <i>BAG3</i> -associated neuromuscular diseases in Europe Open
De novo or autosomal dominant BAG3 gene variants cause a wide range of skeletal and cardiac muscle diseases encompassing Charcot–Marie–Tooth disease, myofibrillar myopathy, cardiomyopathy or a combination of them. Given the severity and ra…
View article: Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models Open
View article: Corrigendum to “Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review” [NMD, volume 49, article 105341]
Corrigendum to “Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review” [NMD, volume 49, article 105341] Open
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…
View article: Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review
Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review Open
View article: Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvement
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvement Open
Background Weakness of facial, ocular and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants in genes encoding triad proteins. Abnormalities in triad structure and function resulting in d…
View article: Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study Open
Background and purpose Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable ch…
View article: Axial involvement as a prominent feature in SMPX-related distal myopathy
Axial involvement as a prominent feature in SMPX-related distal myopathy Open
View article: Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Open
View article: Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3 Open
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS). …
View article: Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis Open
Neurological Motor Disorders
View article: Loss-of-function variants in<i>JPH1</i>cause congenital myopathy with prominent facial involvement
Loss-of-function variants in<i>JPH1</i>cause congenital myopathy with prominent facial involvement Open
Background Weakness of facial, ocular, and axial muscles is a common clinical presentation in congenital myopathies caused by pathogenic variants in genes encoding triad proteins. Abnormalities in triad structure and function resulting in …
View article: Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration Open
Becker muscular dystrophy (BMD) is characterised by fiber loss and expansion of fibrotic and adipose tissue. Several cells interact locally in what is known as the degenerative niche. We analysed muscle biopsies of controls and BMD patient…
View article: Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain Open
Background: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by mutations in Survival motor neuron 1 ( SMN1) gene, leading to reduction in survival motor neuron protein (SMN), key for motor neuron survival and fu…
View article: X-linked Emery-Dreifuss muscular dystrophy is associated with a high risk of malignant ventricular arrhythmia
X-linked Emery-Dreifuss muscular dystrophy is associated with a high risk of malignant ventricular arrhythmia Open
Background Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (X-linked) and LMNA (autosomal dominant). LMNA variants are known to cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA) [1], but …
View article: Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations Open
View article: Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure
Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure Open
Background and Aims Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (…
View article: Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis Open
Distal motor neuropathies (dHMN) are an heterogenous group of diseases characterized by progressive muscle weakness affecting predominantly the distal muscles of the lower and upper limbs. Our aim was to study the imaging features and patt…
View article: Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories Open
Respiratory dysfunction is a frequent complication of patients with LGMDs that needs to be carefully studied and has direct implications in the care offered in daily clinics. Respiratory dysfunction is associated with disease progression b…
View article: Decoding Duchenne muscular dystrophy transcriptome to single nuclei level reveals clinical-genetic correlations
Decoding Duchenne muscular dystrophy transcriptome to single nuclei level reveals clinical-genetic correlations Open
The cellular and molecular consequences of lack of dystrophin in humans are only partially known, which is crucial for the development of new therapies aiming to slow or stop the progression Duchenne and Becker muscular dystrophies. We ana…
View article: 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants Open
The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate media…
View article: 2-year Change in Revised Hammersmith Scale scores in a large cohort of untreated paediatric type 2 and 3 SMA participants
2-year Change in Revised Hammersmith Scale scores in a large cohort of untreated paediatric type 2 and 3 SMA participants Open
The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate media…
View article: Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies
Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies Open
Objective The North Star Assessment for limb-girdle type muscular dystrophies (NSAD), a clinician-reported outcome measure (ClinRO) of motor performance, was initially developed and validated for use in dysferlinopathy, an autosomal recess…
View article: Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK
Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK Open
Spinal Muscular Atrophy (SMA) is characterized by muscle atrophy and weakness and has an incidence of 1:11. 000 live births which projects an estimated population in the UK of 650–1,300 affected patients. Standards of Care (SoC) were updat…
View article: Growth pattern trajectories in boys with Duchenne muscular dystrophy
Growth pattern trajectories in boys with Duchenne muscular dystrophy Open
View article: Andersen–Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity
Andersen–Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity Open
Andersen–Tawil syndrome is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously expressed Kir2.1 potassium channel. The syndrome is characterized by episodic weakness, cardiac arrythmias and dysm…
View article: Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy Open
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. Delta-sarcoglycanopat…
View article: International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy
International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy Open
Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these condit…
View article: 84 Investigating temporal changes in percent predicted FVC and RULM score in non-ambulant SMA type III children
84 Investigating temporal changes in percent predicted FVC and RULM score in non-ambulant SMA type III children Open
Spinal muscular atrophy (SMA) type III is a relatively mild form of SMA where a significant proportion lose ambulation during childhood. There is a paucity of studies investigating changes in both the respiratory and upper limb function w…