SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
SPTSSA 变体会改变鞘脂合成并导致复杂的遗传性痉挛性截瘫
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awac460
Siddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, Sita D Gupta, Xueyang Pan, Niranjanakumari Somashekarappa, Gongshe Han, Payam Mohassel, Marc Gotkine, Elizabeth Doney, Paula Goldenberg, Queenie K G Tan, Yi Gong, Benjamin Kleinstiver, Brian Wishart, Heidi Cope, Claudia Brito Pires, Hannah Stutz