Cellular and Molecular Mechanisms in Neuromuscular Diseases: From Basic Research to Clinical Approach

Dear Colleagues,

Neuromuscular disorders (NMD) form a heterogeneous group of genetic and acquired disorders that occur from early childhood to older age. In recent years, the classification of NMD has substantially improved and novel genetic diseases have been identified. New treatment strategies have been implemented for genetic NMD, and several drugs have been recently approved for the treatment of specific NMDs. Despite these huge advances, many NMDs still remain without causative treatment, and therapy is imperfect in others. Therefore, deeper insights into the pathophysiologic cellular and molecular mechanisms are urgently needed to provide new treatment targets and to further improve existing therapies. Acquired NMDs are often associated with immunological dysregulation. Specific antibodies can predict prognosis and outcome to therapy. In addition, new therapies such as immune check point inhibitors can lead to novel phenotypes. However, there are still many unsolved questions concerning the aetiology and pathogenesis of acquired NMD, and new analysis strategies are needed.

This Special Issue of Cells aims to provide new insights into cellular and molecular mechanisms responsible for NMD and to outline novel therapeutic strategies. We aim to cover a wide range of aspects from basic science to clinical application.

Topics of interest regarding cellular and molecular mechanisms in NMD may include the following:

• Advances in understanding the disease aetiology and pathogenesis
• “Omics” analysis in healthy and diseased muscles to identify content and function
• Generation of induced pluripotent stem cells (iPSC)-derived myocytes for understanding molecular mechanisms and new treatment strategies
• Differences and similarities in skeletal and heart sarcomere maintenance
• Immunological response in neuromuscular diseases and new therapeutic strategies
• Autophagy processes in maintaining cellular homeostasis in striated muscles
• Genetic therapeutic targets in neuromuscular diseases
• Fibroblast transdifferentiation into myotubes
• Organoids
• Potential biomarkers/stratification markers
• Clinical studies evaluating diagnostic, prognostic and therapeutic measures

We look forward to your contribution.

Dr. Anne Schänzer
Dr. Tobias Ruck
Prof. Dr. Andreas Hahn
Dr. Corinna Preusse
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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly 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 2700 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.