Associated Papers
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
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG11
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
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
33854469 (PubMed )
Supplement: Table_1.XLSX › Genes
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
Tesson C et al.
Human Genetics, 2015
25758904 (PubMed )
Supplement: 439_2015_1536_MOESM1_ESM.pdf
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
26213621 (PubMed )
Supplement: 40035_2015_36_MOESM1_ESM.xlsx › Sheet1
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
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
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