Genetics of Neuromuscular and Metabolic Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".
Deadline for manuscript submissions: 5 December 2025 | Viewed by 56
Special Issue Editors
Interests: metabolism; glycolysis; mitochondira; genetics; genetic models; biochemistry; therapy development; neuromuscular function and neurogenetics
Special Issues, Collections and Topics in MDPI journals
Interests: neurogenetics; motor neuron diseases; Amyotrophic Lateral Sclerosis; cerebral cavernous malformations; genotype-phenotype correlations; gene variant consequences; micrornas
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Genetic diseases that affect neuromuscular function and/or metabolism are especially heinous. They can develop at any stage of life, with many people having early pediatric onset diseases. Many of these diseases are rare and ultra-rare, are understudied, and currently lack treatments, leading to a terrible prognosis. In this Special Issue we welcome both review articles and original research related to neuromuscular and metabolic genetic diseases. This Special Issue will focus on the genetic studies of such diseases and multidisciplinary approaches being used in their genetic models. We aim for this edition to emphasize a variety of genetic and omic approaches that will expand our basic knowledge in these areas, as well as translational research elucidating mechanisms of disease, identifying therapeutic targets, or advancing new therapies. Example topics include, but are not limited to, the following: neurogenetics research, mitochondrial or glycolytic diseases, genetic and omics studies of metabolic and neuromuscular disease, rare disease model development, mechanistic studies of rare/ultra-rare genetic diseases, studies of neurologic and neuromuscular diseases, and gene and genetic therapy development for rare diseases. We look forward to your contribution.
Prof. Dr. Micheal Palladino
Dr. Claudia Ricci
Guest Editors
Manuscript Submission Information
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Keywords
- neurogenetics
- metabolism
- genetic models
- biochemistry
- therapy development
- rare and ultra-rare genetic diseases
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