Exploring the Genetics and Genomics of Neuromuscular Disorders
A Special Issue of Genes (ISSN 2073-4425) belonging to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 20 May 2027 | Viewed by 34
Editors
2. Department of Pediatrics, The Ohio State University, Columbus, OH 43215, USA
Interests: neuromuscular disorders; genetics; diagnosis; viral and non-viral gene therapy
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Neuromuscular disorders are a heterogeneous group of conditions affecting any part of the peripheral nervous system or muscles, spanning patients of all ages and ranging from spinal muscular atrophy (SMA) in infancy to late-onset inflammatory myositis.
Genetic and genomic studies are rapidly advancing our understanding of these disorders, from the ever-expanding genetic architecture underlying ostensibly well-characterised conditions such as channelopathies and repeat expansion disorders (e.g., myotonic dystrophy) through to the use of single-cell sequencing to dissect the immune architecture of myasthenia gravis, whose molecular aetiology remains far from being fully understood.
Whilst other Special Issues have focussed on the genetic diagnosis and treatment of specific conditions such as Duchenne Muscular Dystrophy (https://www.mdpi.com/journal/genes/special_issues/H4D7C479XL), this Special Issue aims to highlight cutting-edge research into the molecular and cellular mechanisms across major neuromuscular disorders, the identification of advanced biomarkers, and the development of novel therapeutic approaches for this diverse group of conditions.
We welcome the submission of original research articles or reviews spanning the full spectrum of neuromuscular genetics and genomics, from rare monogenic disorders to complex immune-mediated disease.
Dr. Liubov V. Gushchina
Dr. Michael J. Keogh
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- neuromuscular diseases
- molecular mechanisms
- genetic diagnostics
- biomarkers
- advanced therapies
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