Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG56
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Durand CM et al.
Human Mutation, 2018
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.
Kariminejad A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
Citterio A et al.
Journal of Neurology, 2014
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