Associated Papers
A novel DCTN1 mutation causing perry syndrome leads to abnormal splicing of mRNA: genetic and functional analyses.
Tian W et al.
Acta Neurologica Belgica, 2024
An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.
He J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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