Oculopharyngeal muscular dystrophy (OPMD) is a late-onset intractable myopathy,
characterized by slowly progressive ptosis, dysphagia, and proximal limb weakness. It is …

Purpose of review The aims of this review are to discuss the imaging modalities used to
assess muscle changes in myopathies, to provide an overview of the inherited myopathies …

Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized
by ptosis and weakness of the facial, pharyngeal, and distal limb muscles. A recent report …

Objective Genetic diagnosis of muscular dystrophies (MDs) has classically been guided by
clinical presentation, muscle biopsy, and muscle MRI data. Muscle MRI suggests diagnosis …

Abstract Protein O-glucosyltransferase 1 (POGLUT1) activity is critical for the Notch signaling
pathway, being one of the main enzymes responsible for the glycosylation of the …

Background: Muscle MRI is increasingly used as a diagnostic and research tool in muscle
disorders. However, the correlation between MRI abnormalities and histopathological …

Purpose The purpose of this study was to assess the capabilities of a deep learning (DL)
tool to discriminate between type 1 facioscapulo-humeral dystrophy (FSHD1) and myositis …

Objectives Immune-mediated necrotizing myopathy (IMNM) is the most severe idiopathic
inflammatory myopathy (IIM) and early aggressive poly-immunotherapy is often required to …

Background and Objectives Oculopharyngeal muscular dystrophy (OPMD) is a late-onset,
progressive muscle disease. Disease progression is known to be slow, but details on the …

The latest results obtained from the study of long cohorts of patients with various
neuromuscular diseases open the door to the use of this technology in clinical trials, which …