Associated Papers
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.
Carretero-Vilarroig L et al.
European Journal of Neurology, 2026
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia.
Deng K et al.
Genes & Diseases, 2024
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Wang XC et al.
Molecular Medicine Reports, 2023
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
van Eyk CL et al.
Npj Genomic Medicine, 2021
34531397 (PubMed )
Supplement: 41525_2021_238_MOESM1_ESM.pdf
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
Svenson IK et al.
American Journal of Human Genetics, 2001
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