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Spinal muscular atrophy
Spinal muscular atrophy
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Driscoll SW, Skinner J. Musculoskeletal complications of neuromuscular disease in children. Phys Med Rehabil Clin N Am. 2008 Feb;19(1):163-94, viii.
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Gavrilina TO, McGovern VL, Workman E, et al. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle specific SMN expression has no phenotypic effect. Hum Mol Genet. 2008 Jan 4.
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Gunadi, Sasongko TH, Yusoff S, et al. Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure. Ann Hum Genet. 2008 Mar;72(Pt 2):288-91.
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Kaindl AM, Guenther UP, Rudnik-Schöneborn S, et al. Spinal muscular atrophy with respiratory distress type 1 (SMARD1). J Child Neurol. 2008 Feb;23(2):199-204.
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Thurmond J, Butchbach ME, Palomo M, et al. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem. 2008 Feb 14;51(3):449-69.
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