Associated Papers
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
Bervoets S et al.
Nature Communications, 2019
Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.
Li LX et al.
Oncotarget, 2016
[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.
Leitão-Gonçalves R et al.
Amino Acids, 2012
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