Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Cited by 89 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations;Frontiers in Neurology;2023-12-07
2. The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4;Genetics in Medicine;2022-11
3. Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia;Brain;2022-07-28
4. Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2022
5. A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene;Case Reports in Genetics;2021-12-14
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