Associated Papers
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2c_predicted_DM_URVs
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG56
Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations.
Leeson HC et al.
Stem Cell Research, 2022
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
Legrand A et al.
Journal of Internal Medicine, 2021
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Durand CM et al.
Human Mutation, 2018
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.
Minase G et al.
Journal of Human Genetics, 2017
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
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