Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG5
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
Chou CT et al.
Annals of Clinical and Translational Neurology, 2020
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L et al.
Brain : a Journal of Neurology, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
25073475 (PubMed )
Supplement: 1755-8794-7-47-S1.docx
Human steroid and oxysterol 7α-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants.
Yantsevich AV et al.
The Febs Journal, 2014
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Arnoldi A et al.
Clinical Genetics, 2012
Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
Siam A et al.
Journal of Molecular Modeling, 2012
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Schlipf NA et al.
Clinical Genetics, 2011
Disorders of bile acid synthesis.
Clayton PT
Journal of Inherited Metabolic Disease, 2011
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C et al.
Brain : a Journal of Neurology, 2009
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Tsaousidou MK et al.
American Journal of Human Genetics, 2008
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