Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott CJ et al.
Neurology, 2006
No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene.
Sauter SM et al.
Journal of Neurology, 2006
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