Molecular Advances in Neuromuscular Disorders: Spinal Muscular Atrophy and Beyond
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: closed (31 May 2023) | Viewed by 3678
Special Issue Editors
Interests: molecular basis of neurodegeneration associated with neurodegenerative/neuromuscular disorders, including SMA and ALS
Interests: preclinical and translational research on neurodegenerative and neuromuscular disorders (Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis)
Special Issue Information
Dear Colleagues,
Neuromuscular disorders are a group of neurodegenerative disorders characterized by degeneration of spinal motor neurons leading to muscle atrophy and life-threatening conditions. This Special Issue will focus on the molecular advances in the fields of spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS) and other motor neuron diseases, including SMA with respiratory distress type I (SMARD1). SMA and ALS have similarities and differences such as degeneration of spinal motor neurons but are quite different in terms of age and onset. For example, SMA is a childhood disease with early onset, whereas ALS is an adulthood disease with middle to late age onset. SMA is an autosomal recessive disease caused by mutation of the survival motor neurons 1 (SMN1) gene. In contrast, ALS has both inherited (familial) and sporadic forms, and the familial forms have been linked to distinct genes, including superoxide dismutase (SOD1), Senataxin (SETX) and C9orf72, associated with autosomal dominant and recessive inheritance patterns. ALS has degeneration of upper as well as lower motor neurons. Recent studies have suggested the possibility that common molecular defects in RNA metabolism and genomic instability may contribute to ALS and SMA pathogenesis. Recent advances in research suggest that common molecular mechanisms might mediate neurodegeneration among a wide spectrum of motor neuron diseases.
Prof. Dr. Laxman Gangwani
Prof. Dr. Peter Claus
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 100 words) can be sent to the Editorial Office for announcement on this website.
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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
- SMA
- ALS
- SMARD1
- neurodegeneration
- motor neuron disorders
