The ability to manage complex pediatric neuromuscular patients at home has rapidly
evolved with improving technology. Now both invasive and non-invasive ventilatory options …

Myopathies related to variations in the RYR1 gene are genetic diseases for which the
therapeutic options are sparse, in part because of the very large size of the gene and …

Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common form of muscular
dystrophy, accounting for over 50% of all cases. In this regard, in Russia we carry out a …

The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy
caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most …

Background and Objectives Clinical trials in Duchenne muscular dystrophy (DMD) require 3–
6 months of stable glucocorticoids, and the primary outcome is explored at 48–52 weeks …

Background Quantitative magnetic resonance imaging (MRI) is considered an objective
biomarker of Duchenne muscular dystrophy (DMD), but the longitudinal progression of MRI …

Mitochondria play a central role in muscle metabolism and function. In skeletal muscles, a
unique family of iron-sulfur proteins, termed CISD proteins, support mitochondrial function …

Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive
muscle weakness, ventilatory failure, and reduced survival. Onasemnogene abeparvoves is …

We sought to determine the prevalence of sexual health counseling in patients with
Duchenne muscular dystrophy in a single-institution setting. Keywords related to sexual …

Cardioembolic stroke (CS) has emerged as a leading cause of ischaemic stroke (IS);
distinguished by thrombi embolising to the brain from cardiac origins; most often from the left …