The recent development of therapeutic approaches for Duchenne muscular dystrophy
(DMD) has highlighted the need to identify clinical outcome measures for planned efficacy …

GNAO1 variants were recently discovered as causes of epileptic encephalopathies and
heterogeneous syndromes presenting with movement disorders (MDs), whose …

The North Star Ambulatory Assessment is a functional scale specifically designed for
ambulant boys affected by Duchenne muscular dystrophy (DMD). Recently the 6-minute …

Objective: The aim of the study was to assess different outcome measures in a cohort of
ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months in order to …

Background Dominant and recessive variants in the KIF1A gene on chromosome 2q37. 3
are associated with several phenotypes, although only three syndromes are currently listed …

Background: Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-
dystroglycan (α-DG) are a heterogeneous group of conditions associated with mutations in …

OBJECTIVES: To assess attention deficit hyperactivity disorder (ADHD) in boys affected by
Duchenne muscular dystrophy (DMD) and to explore the relationship with cognitive abilities …

Objective The aim of the study was to evaluate whether the visual analysis of muscle
magnetic resonance imaging scans can identify specific patterns of muscle involvement …

Objectives The aim of the study was i) to assess the spectrum of changes over 24 months in
ambulant boys affected by Duchenne muscular dystrophy, ii) to establish the difference …

Ferroptosis is an iron-dependent cell death caused by impaired glutathione metabolism,
lipid peroxidation and mitochondrial failure. Emerging evidences report a role for ferroptosis …