Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical)
Cited by 35 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. RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation;The American Journal of Human Genetics;2023-12
2. A case of spastic paraplegia with SPG4 and SPG3 associated mutations;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2023
3. Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia;Russian Journal of Genetics;2022-09
4. A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching;Journal of Biological Chemistry;2022-01
5. Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia;Scientific Reports;2019-10-08
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