Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
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
Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.
Theuriet J et al.
Genes, 2021
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
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S et al.
European Journal of Human Genetics : Ejhg, 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
Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.
Schüle R et al.
Journal of Lipid Research, 2010
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