Spinal muscular atrophy—recent therapeutic advances for an old challenge
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Publisher
Springer Science and Business Media LLC
Link
http://www.nature.com/articles/nrneurol.2015.77.pdf
Reference111 articles.
1. Werdnig, G. Two early infantile hereditary cases of progressive muscular atrophy simulating dystrophy, but on a neural basis. 1891. Arch. Neurol. 25, 276–278 (1971).
2. Brzustowicz, L. M. et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–133. Nature 344, 540–541 (1990).
3. Arnold, W. D., Kassar, D. & Kissel, J. T. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve 51, 157–167 (2014).
4. Darras, B. T. Non-5q spinal muscular atrophies: the alphanumeric soup thickens. Neurology 77, 312–314 (2011).
5. Rossor, A. M. et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain 138, 293–310 (2014).
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