Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3
长读长测序鉴定出ATXN3重复序列扩增,转录组学揭示了脊髓小脑性共济失调3型疾病进展生物标志物和可药物靶点
期刊:BMC Neurology
影响因子:2.2
doi:10.1186/s12883-025-04378-z
Liu, Chang; Wang, Xin; Xu, Chao; Liu, Xiaoxiang; Ke, Liyan; Li, Ying; Zhang, Hang; Tan, Jianqiang; Tan, Senwei; Zhang, Zitong; Cheng, Liang; Ren, Yaqiong; Shi, Lei