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Lyndsay M. Murray et al.
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Tatyana Novoyatleva et al.
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Mary S. Sakla et al.
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Vanita Chopra et al.
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T. K. Rajendra et al.
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L. R. Simard et al.
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Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
Virginia B. Mattis et al.
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The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells
Markus Riessland et al.
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Robert E. Pyatt et al.
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E Hahnen et al.
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Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
SM Grzeschik et al.
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F Gabanella et al.
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J Jarecki et al.
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LL Wan et al.
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EC Wolstencroft et al.
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TT Le et al.
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XQ Zhang et al.
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RL Rouget et al.
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被撤回的出版物: Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene (Retracted article. See vol. 293, pg. 12946, 2018)
S Majumder et al.
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Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells
B Boda et al.
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YB Chan et al.
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S Nicole et al.
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CJ Sumner et al.
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S Vezmar et al.
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C Cifuentes-Diaz et al.
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