Subject Areas on Research
- A second leaky splice-site mutation in the spastin gene.
- Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.
- Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
- Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
- Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
- Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.
- Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.