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Pathogenic Variants in SPTSSA Dysregulate Sphingolipid Synthesis and Cause a Complicated Form of Hereditary Spastic Paraplegia

S. Srivastava, H. Shaked,K. Gable,S. Gupta, N. Somashekarappa,G. Han,M. Gotkine,H. Cope,P. Goldenberg, Q. Tan,O. Elpeleg, C-H Lee, E. Shimon,F. Eichler,T. Dunn

ANNALS OF NEUROLOGY（2022）

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关键词
Genetics,Movement Disorders (including Cerebral Palsy)
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