Neuromuscular and Neurodegenerative Diseases: Towards Personalized Medicine, Therapeutics and Improved Mechanistic Understanding, 2nd Edition

Dear Colleagues,

This Special Issue focuses on neuromuscular and neurodegenerative diseases in childhood and adult life (including muscular dystrophies, spinal muscular atrophies, myotonic syndromes, metabolic myopathies, myasthenia gravis, hereditary myopathies, metabolic and inflammatory myopathies, motor neuron diseases, dementia, Parkinsonism, Huntington disease etc).

Advancing research for neuromuscular and neurodegenerative diseases requires a coordinated effort between clinicians, scientists, patients and their families, and other stakeholders. This collaboration drives the collection of samples and the direction of clinical investigation, and combined with recent progress in terms of genetic and genomic analysis has enabled the research community to make real gains towards improvements in patient care, such as the identification of specific genetic factors that have a key role in pathogenesis. Indeed, genetic and genomic analyses not only allow the identification of monogenic and polygenic causes of heritable diseases, but can also identify modifiers that can influence the course and severity of a given disease.

The identification of different groups and subgroups of patients affected by a specific disease pushes the scientific community to move toward personalised/stratified therapeutic strategies. The recent development of multidisciplinary approaches such as multi-omics analysis, electrophysiological and neuroimaging measures, as well as cellular and animal models is having an important impact on medical advances for these types of disease.

Deciphering the cascade of mechanisms being affected in each subgroup improves our understanding of a given disease and helps us to identify biomarkers and therapeutic strategies.

This Special Issue is dedicated to recent research progress in neuromuscular and neurodegenerative diseases, with a focus on:

• Biomarkers: diagnostic, prognostic, patient stratification, wet biomarkers (in body fluids), dry biomarkers (imaging, neuroimaging, electrophysiology);
• Clinical indicators;
• Mechanisms explaining or contributing to irreversible cell loss;
• Therapeutic strategies.

Up-to-date original research papers, communications and reviews will be considered.

We look forward to your contributions to this Special Issue.

Dr. Stephanie Duguez
Prof. Dr. Julie Dumonceaux
Dr. William Duddy
Dr. Gavin McCluskey
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. Journal of Personalized Medicine 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.