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
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 2009
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.
Schickel J et al.
European Journal of Neurology, 2007
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
Depienne C et al.
Journal of Medical Genetics, 2006
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