Quintana AM, Yu HC, Brebner A, Pupavac M, Geiger EA, Watson A, Castro VL, Cheung W, Chen SH, Watkins D, Pastinen T, Skovby F, Appel B, Rosenblatt DS, Shaikh TH

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.

Hum Mol Genet 26:2838-2849 (2017)
DOI:10.1093/hmg/ddx157

Tan D, Wei C, Chen Z, Huang Y, Deng J, Li J, Liu Y, Bao X, Xu J, Hu Z, Wang S, Fan Y, Jiang Y, Wu Y, Wu Y, Wang S, Liu P, Zhang Y, Yang Z, Jiang Y, Zhang H, Hong D, Zhong N, Jiang H, Xiong H

CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.

Mov Disord 38:1282-1293 (2023)
DOI:10.1002/mds.29412