Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG11
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.
Regensburger M et al.
Nutrients, 2022
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.
Utz KS et al.
Orphanet Journal of Rare Diseases, 2022
Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor Neurons.
Güner F et al.
Frontiers in Neuroscience, 2021
Human SPG11 cerebral organoids reveal cortical neurogenesis impairment.
Pérez-Brangulí F et al.
Human Molecular Genetics, 2019
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Popp B et al.
Scientific Reports, 2018
30464253 (PubMed )
Supplement: 41598_2018_35506_MOESM1_ESM.pdf
Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons.
Pozner T et al.
Frontiers in Neuroscience, 2018
GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model.
Mishra HK et al.
Annals of Neurology, 2016
Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.
Pérez-Brangulí F et al.
Human Molecular Genetics, 2014
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L et al.
Neurogenetics, 2010
20390432 (PubMed )
Supplement: 10048_2010_243_MOESM2_ESM.pdf
Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.
Bauer P et al.
Neurogenetics, 2009
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U et al.
Annals of Neurology, 2007
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