Associated Papers
Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation.
Scherpelz KP et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Krumm L et al.
Acta Neuropathologica, 2024
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
Tideglusib Rescues Neurite Pathology of SPG11 iPSC Derived Cortical Neurons.
Pozner T et al.
Frontiers in Neuroscience, 2018
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E et al.
Brain : a Journal of Neurology, 2016
GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model.
Mishra HK et al.
Annals of Neurology, 2016
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
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
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
Orlacchio A et al.
Brain : a Journal of Neurology, 2010
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
Paisan-Ruiz C et al.
Neurology, 2008
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U et al.
Annals of Neurology, 2007