Associated Papers
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
Chou CT et al.
Annals of Clinical and Translational Neurology, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Krenn M et al.
European Journal of Neurology, 2020
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Marelli C et al.
Brain : a Journal of Neurology, 2018
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L et al.
Brain : a Journal of Neurology, 2017
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).
Hauser S et al.
Stem Cell Research, 2016
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
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.
Noreau A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 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
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C et al.
Brain : a Journal of Neurology, 2009
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
Schüle R et al.
Neurogenetics, 2009
Hereditary spastic paraparesis due to SPG5/CYP7B1 mutation with potential therapeutic implications.
Pérez-Torre P et al.
Neurologia, 0