In the frame of the Global Monitoring for Environment and Security (GMES) Space
Component programme, the European Space Agency (ESA) undertook the development of a …

Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group
of myopathies, including autosomal dominant and recessive forms 1–3 . To date, two …

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

A puzzling observation in patients with oxidative phosphorylation (OXPHOS) deficiencies is
the presence of combined enzyme complex defects associated with a genetic alteration in …

Background Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease
characterized by an onset at 6 months of age or younger, an inability to sit without support, …

Background The mitochondrial myopathies typically affect many organ systems and are
associated with mutations in mitochondrial DNA (mtDNA) that are maternally inherited. However, …

Objective To assess systematically the performance of prenatal magnetic resonance
imaging ( MRI ) in diagnosing the presence, degree and topography of disorders of invasive …

Background Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease
caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor …

Background. To establish the usefulness of placental magnetic resonance in patients with a
diagnosis of placenta accreta through the correlation of diagnostic images and surgical …

Genome‐wide gene expression profiling of skeletal muscle from Duchenne muscular
dystrophy (DMD) patients has been used to describe muscle tissue alterations in DMD children …