| Title | Author(s) | Year | View Count |
 | A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family | Lin, P; Mao, F; Liu, Q; Yang, W; Shao, C; Yan, C; Gong, Y | 2010 | 435 |
| A Missense Mutation in SLC33A1, which Encodes the Acetyl-CoA Transporter, Causes Autosomal-Dominant Spastic Paraplegia (SPG42) | Lin, P; Li, J; Liu, Q; Mao, F; Li, J; Qiu, R; Hu, H; Song, Y; Yang, Y; Gao, G; Yan, C; Yang, W; Shao, C; Gong, Y | 2008 | 571 |
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