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Molecular Advances in Neuromuscular Disorder: Spinal Muscular Atrophy and More

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 March 2024) | Viewed by 673

Special Issue Editor


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Guest Editor
Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, 80131 Naples, Italy
Interests: neurological diseases; neurological disorders; adult neurology; neuromuscular disorders; clinical neurology

Special Issue Information

Dear Colleagues,

This Special Issue is dedicated to exploring cutting-edge research and advancements in the field of neuromuscular disorders (NMDs). Neuromuscular disorders encompass a broad spectrum of debilitating conditions that affect the peripheral nervous system, leading to dysfunction and impairment of the muscles they innervate. These disorders can arise due to genetic mutations, autoimmune responses, metabolic abnormalities or other yet-to-be-fully-understood factors, resulting in a diverse array of clinical presentations and disease trajectories.

The Special Issue will serve to showcase the latest breakthroughs and discoveries in neuromuscular disorder research. Assembling contributions from esteemed researchers and clinicians, it aims to offer an extensive overview of the state-of-the-art techniques, novel therapeutic approaches and promising translational studies that hold the potential to transform the lives of those grappling with NMDs. Through the collective effort of the scientific community, we hope to pave the way toward more accurate diagnoses and effective interventions, ultimately improving the quality of life for individuals living with neuromuscular disorders.

Dr. Lucia Ruggiero
Guest Editor

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

  • neuromuscular disorders
  • spinal muscular atrophy
  • molecular advance
  • state-of-the-art
  • therapeutic approaches
  • translational studies
  • disease trajectories

Published Papers (1 paper)

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Review

15 pages, 952 KiB  
Review
Beyond Motor Neurons in Spinal Muscular Atrophy: A Focus on Neuromuscular Junction
by Francesca Torri, Michelangelo Mancuso, Gabriele Siciliano and Giulia Ricci
Int. J. Mol. Sci. 2024, 25(13), 7311; https://doi.org/10.3390/ijms25137311 (registering DOI) - 3 Jul 2024
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Abstract
5q-Spinal muscular atrophy (5q-SMA) is one of the most common neuromuscular diseases due to homozygous mutations in the SMN1 gene. This leads to a loss of function of the SMN1 gene, which in the end determines lower motor neuron degeneration. Since the generation [...] Read more.
5q-Spinal muscular atrophy (5q-SMA) is one of the most common neuromuscular diseases due to homozygous mutations in the SMN1 gene. This leads to a loss of function of the SMN1 gene, which in the end determines lower motor neuron degeneration. Since the generation of the first mouse models of SMA neuropathology, a complex degenerative involvement of the neuromuscular junction and peripheral axons of motor nerves, alongside lower motor neurons, has been described. The involvement of the neuromuscular junction in determining disease symptoms offers a possible parallel therapeutic target. This narrative review aims at providing an overview of the current knowledge about the pathogenesis and significance of neuromuscular junction dysfunction in SMA, circulating biomarkers, outcome measures and available or developing therapeutic approaches. Full article
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