The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
Duchenne muscular dystrophy
Abstract
Duchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s. The use of corticosteroids, non‐invasive respiratory support, and active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy. The clinical features, investigations and management of Duchenne muscular dystrophy are reviewed, as well as the latest in some of the novel therapies.
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Citations
Cites
Dystrophin: the protein product of the Duchenne muscular dystrophy locus
Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987) · Cell · doi:10.1016/0092-8674(87)90579-4 · Cited by 4,693
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., et al. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70271-6 · Cited by 2,053
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., et al. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70272-8 · Cited by 1,172
PTC124 targets genetic disorders caused by nonsense mutations
Welch, E. M., Barton, E. R., Zhuo, J., Tomizawa, Y., Friesen, W. J., Trifillis, P., Paushkin, S., Patel, M., Trotta, C. R., Hwang, S., et al. (2007) · Nature · doi:10.1038/nature05756 · Cited by 1,137
Eagle, M., Baudouin, S. V., Chandler, C., Giddings, D. R., Bullock, R., & Bushby, K. (2002) · Neuromuscular Disorders · doi:10.1016/s0960-8966(02)00140-2 · Cited by 1,009
Hoffman, E. P., Fischbeck, K. H., Brown, R. H., Johnson, M., Medori, R., Loire, J. D., Harris, J. B., Waterston, R., Brooke, M., Specht, L., et al. (1988) · New England Journal of Medicine · doi:10.1056/nejm198805263182104 · Cited by 927
Eteplirsen for the treatment of Duchenne muscular dystrophy
Mendell, J. R., Rodino‐Klapac, L. R., Sahenk, Z., Roush, K., Bird, L., Lowes, L. P., Alfano, L., Gomez, A. M., Lewis, S., Kota, J., et al. (2013) · Annals of Neurology · doi:10.1002/ana.23982 · Cited by 817
Evidence-based path to newborn screening for Duchenne muscular dystrophy
Mendell, J. R., Shilling, C., Leslie, N. D., Flanigan, K. M., al‐Dahhak, R., Gastier‐Foster, J., Kneile, K., Dunn, D. M., Duval, B., Aoyagi, A., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23528 · Cited by 813
Aartsma‐Rus, A., Van Deutekom, J. C. T., Fokkema, I. F., Van Ommen, G. B., & Den Dunnen, J. T. (2006) · Muscle & Nerve · doi:10.1002/mus.20586 · Cited by 739
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
Nigro, G., Comi, L. I., Politano, L., & Bain, R. J. I. (1990) · International Journal of Cardiology · doi:10.1016/0167-5273(90)90082-g · Cited by 731
Cited by
Vignaud, J., Loiseau, C., Hérault, J., Mayer, C., Côme, M., Martin, I., & Ulmann, L. (2023) · Antioxidants · doi:10.3390/antiox12051050 · Cited by 72
Metadata
- Authors
- Yiu, E. M., & Kornberg, A. J.
- Venue
- Journal of Paediatrics and Child Health
- Publisher
- Wiley
- Published
- 2015-03-09
- Volume
- 51
- Issue
- 8
- Pages
- 759-764
- ISSN
- 1034-4810 (ISSN-L)
- 1440-1754
- OpenAlex
- W1926939363
- Cited by
- 335
- References
- 39
- FWCI
- 6.43
- Type
- journal article
- Language
- en
- Open access
- closed
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- Yiu, E. M., & Kornberg, A. J. (2015). Duchenne muscular dystrophy. Journal of Paediatrics and Child Health. https://doi.org/10.1111/jpc.12868
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
