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
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore A et al.
Frontiers in 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 phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Arnoldi A et al.
Clinical Genetics, 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
Electrophysiological characterisation in hereditary spastic paraplegia type 5.
Manganelli F et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2011
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.
Criscuolo C et al.
Journal of Neurology, 2009
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