Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG3
A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.
Kelly CM et al.
The Journal of Biological Chemistry, 2022
Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature.
Xiao XW et al.
World Journal of Clinical Cases, 2019
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
29980238 (PubMed )
Supplement: 13024_2018_269_MOESM1_ESM.xlsx › Table_S1
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
Lu X et al.
Journal of the Neurological Sciences, 2014
Select a paper to view details