公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2003 | Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4) gene | MING-JEN LEE ; Stephenson D.A.; Groves M.J.; Sweeney M.G.; Davis M.B.; An S.-F.; Houlden H.; Salih M.A.M.; Timmerman V.; de Jonghe P.; Auer-Grumbach M.; Di Maria E.; Scaravilli F.; Wood N.W.; Reilly M.M. | Human Molecular Genetics | 46 | 45 | |
2017 | A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy | Tsai P.-C.; Soong B.-W.; Mademan I.; Huang Y.-H.; Liu C.-R.; Hsiao C.-T.; Wu H.-T.; Liu T.-T.; Liu Y.-T.; Tseng Y.-T.; Lin K.-P.; Yang U.-C.; Chung K.W.; Choi B.-O.; Nicholson G.A.; Kennerson M.L.; CHIH-CHIANG CHAN ; De Jonghe P.; Cheng T.-H.; Liao Y.-C.; Züchner S.; Baets J.; Lee Y.-C. | Brain | 70 | 64 |