…diseases from the scientific literature and make them accessible through an online database that aims to allow patients to receive the right treatment for their condition as soon as they…

…and immunofluorescence microscopy on the muscle biopsy derived from the patient harbouring the homozygous p.[Pro1133Leu] missense variant revealed core-like zones of myofibrillar disintegration, autophagic vacuoles and accumulation of FLNc. Proteomic…

…Complex mechanisms are required to form neuromuscular synapses, direct their subsequent maturation, and maintain the synapse throughout life. Transcriptional and post-translational pathways play important roles in synaptic differentiation and direct…

The latest edition of the Journal of Neuromuscular Diseases (JND) is available online at the IOS Press website. This edition features open-access articles on new therapeutic targets for centronuclear myopathies,…

…any distal myopathy and provides important information on trial feasibility, recruitment, outcome measures and natural progression, which will aid planning and execution of future clinical trials in GNE myopathy. The…

…and traditional techniques including comprehensive neurological evaluation, histopathology, and biochemistry continue to have a crucial role in diagnostics. For optimal diagnosis, prognosis, and precision medicine, no single ruling technology exists….

…years of age. Our study used 2 data sources – from published literature and from the GNE registry – where both clinical information, e.g. age of onset, and genetic information,…

Our new systematic review by Landfeldt et al on health-related quality of life in myotonic dystrophy type 1 (DM1) is now available online. DM1 is the most common muscular dystrophy…

…biomarkers correlate with clinical progression in Duchenne muscular dystrophy Evaluation of genotypes and epidemiology of spinal muscular atrophy in Greece: A nationwide study spanning 24 years Prospective cohort study of…

…items comprised of research articles, meeting reports and reviews, many of them open access, and is now available online.   The JND is dedicated to providing an open forum for…