Imaging plays an important role in the diagnosis and therapeutic response evaluation of
muscular diseases. However, one important limitation is its incapacity to assess the in vivo …

The muscular dystrophies are rare orphan diseases, characterized by progressive muscle
weakness: the most common and well known is Duchenne muscular dystrophy which affects …

Objective To perform a cross-sectional study to determine whether plasma neurofilament
light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease …

This is a rapidly evolving field where better understanding of pathophysiology is paving the
way to develop potentially effective treatments, part of which will soon be tested in patients …

The adult and juvenile myositis syndromes, commonly referred to collectively as idiopathic
inflammatory myopathies (IIMs), are systemic autoimmune diseases with the hallmarks of …

Recent years have seen tremendous progress towards therapy of many previously incurable
neuromuscular diseases. This new context has acted as a driving force for the development …

Excessive accumulation of intermuscular adipose tissue (IMAT) is a common pathological
feature in various metabolic and health conditions and can cause muscle atrophy, reduced …

Introduction Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder associated
with cognitive and behavioral impairments and motor symptoms. Magnetic resonance …

The availability of disease modifying therapies for spinal muscular atrophy (SMA) has
created an urgent need to identify clinically meaningful biomarkers. Biomarkers present a …

Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically
heterogeneous disorders affecting the peripheral nerves, causing significant and slowly …