Associated Papers
Autonomic profiling in SPG11 hereditary spastic paraplegia.
Amprosi M et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2025
Structural basis for membrane remodeling by the AP5-SPG11-SPG15 complex.
Mai X et al.
Nature Structural & Molecular Biology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Liver-X-receptor agonists rescue axonal degeneration in SPG11-deficient neurons via regulating cholesterol trafficking.
Chai E et al.
Neurobiology of Disease, 2023
Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons.
Chen Z et al.
Brain : a Journal of Neurology, 2022
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.
Faber I et al.
Neuroimage. Clinical, 2018
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C et al.
Brain : a Journal of Neurology, 2016
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
White and grey matter abnormalities in patients with SPG11 mutations.
França MC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L et al.
Neurogenetics, 2010
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
Orlacchio A et al.
Brain : a Journal of Neurology, 2010
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
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U et al.
Annals of Neurology, 2007
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
Stevanin G et al.
Nature Genetics, 2007