Associated Papers
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.
Messaoud-Khelifi M et al.
Neurogenetics, 2025
Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family.
Yu HP et al.
Bmc Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Genetic Background of Macular Telangiectasia Type 2.
Kunčič A et al.
International Journal of Molecular Sciences, 2025
Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.
Zenteno JC et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2023
Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.
El Matri K et al.
Genes, 2021
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
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore A et al.
Frontiers in Neurology, 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
Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.
Leonardi L et al.
Journal of Neurology, 2016
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC et al.
Plos One, 2014
Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.
Sallo FB et al.
Ophthalmology Science, 0