The DOI matches its Crossref record; 203 of the 203 references it cites were found in a registry or an index.
Duchenne muscular dystrophy
Open accessAbstract
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle. Muscles without dystrophin are more sensitive to damage, resulting in progressive loss of muscle tissue and function, in addition to cardiomyopathy. Recent studies have greatly deepened our understanding of the primary and secondary pathogenetic mechanisms. Guidelines for the multidisciplinary care for Duchenne muscular dystrophy that address obtaining a genetic diagnosis and managing the various aspects of the disease have been established. In addition, a number of therapies that aim to restore the missing dystrophin protein or address secondary pathology have received regulatory approval and many others are in clinical development. Duchenne muscular dystrophy is an X-linked progressive, muscle-wasting disease that manifests in childhood as difficulties with movement. This Primer by Aartsma-Rus and colleagues discusses the clinical presentation, epidemiology, pathophysiology, genetic diagnosis and treatment of this disorder.
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Cites
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Applications of multi‐omics analysis in human diseases
Chen, C., Wang, J., Pan, D., Wang, X., Xu, Y., Yan, J., Wang, L., Yang, X., Yang, M., & Liu, G. (2023) · MedComm · doi:10.1002/mco2.315 · Cited by 545
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne’s Muscular Dystrophy
Lek, A., Wong, B., Keeler, A., Blackwood, M., Ma, K., Huang, S., Sylvia, K., Batista, A. R., Artinian, R., Kokoski, D., et al. (2023) · New England Journal of Medicine · doi:10.1056/nejmoa2307798 · Cited by 319
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Metadata
- Authors
- Duan, D., Goemans, N., Takeda, S., Mercuri, E., & Aartsma-Rus, A.
- Venue
- Nature Reviews Disease Primers
- Published
- 2021-02-18
- Volume
- 7
- Issue
- 1
- Pages
- 13-13
- ISSN
- 2056-676X (ISSN-L)
- OpenAlex
- W3131782536
- Cited by
- 1,312
- References
- 203
- FWCI
- 16.93
- Type
- journal article
- Language
- en
- Open access
- bronze
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