SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis
SPTLC2 变异体与早发性肌萎缩侧索硬化症 (ALS) 和额颞叶痴呆 (FTD) 相关，这是由于鞘脂合成异常所致。
期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.52013
Naruse, Hiroya; Ishiura, Hiroyuki; Esaki, Kayoko; Mitsui, Jun; Satake, Wataru; Greimel, Peter; Shingai, Nanoka; Machino, Yuka; Kokubo, Yasumasa; Hamaguchi, Hirotoshi; Oda, Tetsuya; Ikkaku, Tomoko; Yokota, Ichiro; Takahashi, Yuji; Suzuki, Yuta; Matsukawa, Takashi; Goto, Jun; Koh, Kishin; Takiyama, Yoshihisa; Morishita, Shinichi; Yoshikawa, Takeo; Tsuji, Shoji; Toda, Tatsushi
