Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
Hyperactivity of the non-canonical inflammasome in SPG11 and SPG48.
Afzal MA et al.
Ebiomedicine, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Naringenin and SMER28 target lysosomal reformation and rescue SPG11 and SPG15 hereditary spastic paraplegia phenotypes.
Vantaggiato C et al.
Pharmacological Research, 2025
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.
Doronzio PN et al.
Journal of Neurology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.
Chojdak-Łukasiewicz J et al.
International Journal of Molecular Sciences, 2023
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C et al.
Brain : a Journal of Neurology, 2023
New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.
Sardina F et al.
European Journal of Neurology, 2023
Case report: High-frequency repetitive transcranial magnetic stimulation for treatment of hereditary spastic paraplegia type 11.
Chen S et al.
Frontiers in Neurology, 2023
Clinical analysis in patients with SPG11 hereditary spastic paraplegia.
Kang YR et al.
Frontiers in Neurology, 2023
"Ears of the lynx" sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers.
Rattay TW et al.
Journal of Neurology, 2022
SPG11: clinical and genetic features of seven Czech patients and literature review.
Doleckova K et al.
Neurological Research, 2022
Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.
Shi Y et al.
Frontiers in Neurology, 2022
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
Vantaggiato C et al.
Autophagy, 2019
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
Lynch DS et al.
European Journal of Human Genetics : Ejhg, 2016
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V et al.
Brain : a Journal of Neurology, 2014
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L et al.
Neurogenetics, 2010
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS et al.
Human Mutation, 2009
Diffusion tensor imaging of two unrelated Chinese men with hereditary spastic paraplegia associated with thin corpus callosum.
Chen Q et al.
Neuroscience Letters, 2008
Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.
Zhang SS et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2008
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Stevanin G et al.
Brain : a Journal of Neurology, 2008