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• W2113990015 abstract "Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by muscle atrophy and weakness due to degeneration of the anterior horn cells in the spinal cord. A great need exists for an effective treatment of SMA, a disease that often causes severe disability in patients who are cognitively intact and can have a normal life expectancy. Unlike many other neurologic diseases, SMA can be easily diagnosed through genetic testing. Also, preclinical progress over the last 2 decades has been major, with the discovery of the gene and of a druggable modifying gene that provides one of several promising targets for treatment. SMA is rare but is a common orphan disease, so trials should be feasible, raising the hope that we will find effective treatments for this disorder." @default.
• W2113990015 created "2016-06-24" @default.
• W2113990015 creator A5047421271 @default.
• W2113990015 creator A5079146663 @default.
• W2113990015 date "2008-08-01" @default.
• W2113990015 modified "2023-09-23" @default.
• W2113990015 title "Clinical Trials in Spinal Muscular Atrophy" @default.
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• W2113990015 doi "https://doi.org/10.1016/j.pmr.2008.04.006" @default.
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