Tandem Repeats in Neuromuscular Diseases: Recent Developments in Translational Research
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: closed (15 February 2024) | Viewed by 441
Special Issue Editors
Interests: myotonic dystrophy; facioscapulohumeral dystrophy; myopathies; myositis
Special Issue Information
Dear Colleagues,
We are pleased to invite you to contribute a manuscript to this special issue dedicated to “Tandem Repeats in Neuromuscular Diseases: Recent Developments in Translational Research”. Microsatellites repeat expansions are associated to a heterogeneous group of neuromuscular diseases (myotonic dystrophies (DMs), oculopharyngeal muscular dystrophy (OPMD), oculopharyngodistal muscular dystrophy (OPDM), motor neuron diseases (C9orf72). Repeat contraction of larger tandem repeats (macrosatellite) are linked to one of the commonest muscular dystrophy (facioscapulohumeral muscular dystrophy, FSHD1) which is experiencing exciting research advancements. The better understanding of pathogenic mechanisms has led to the development of new therapies that are currently being tested in clinical trials. Natural history studies are allowing a better understanding of disease progression and the identification of interesting biomarkers.
This Special Issue aims to highlight recent advances in the understanding of the genetic background and pathogenesis in the field of tandem repeats (micro- and macrosatellite) in NMDs thus bridging the gap between research and treatment applications.
In this Special Issue, original research articles and reviews are welcome. Research areas may include, but are not limited to, the following topics:
- Myotonic dystrophies (DM1 and DM2);
- Oculopharyngeal muscular dystrophy (OPMD);
- Oculopharyngodistal muscular dystrophy (OPDM);
- Kennedy syndrome;
- C9orf72-motor neuron disease;
- CANVAS;
- Facioscapulohumeral muscular dystrophy (FSHD).
We look forward to receiving your contributions.
Dr. Federica Montagnese
Dr. Enrico Bugiardini
Guest Editors
Manuscript Submission Information
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Keywords
- repeat expansion diseases
- neuromuscular
- repeat contraction diseases
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