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Jannik M. Buettner et al.
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E. Villalon et al.
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Rachel A. Kline et al.
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R. I. Wadman et al.
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Alessandra Govoni et al.
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Aude Nicolas et al.
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Hasane Ratni et al.
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Lyndsay M. Murray et al.
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Michael I. Love et al.
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M. Lamar Seibenhener et al.
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Claudia Fallini et al.
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Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
Karen K. Y. Ling et al.
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A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
Melissa Bowerman et al.
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Minjung Lee et al.
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Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord
S Pagliardini et al.
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