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
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 2023
37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf
Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis.
Mukai M et al.
Internal Medicine (tokyo, Japan), 2018
SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.
Hooper AJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.
Stromillo ML et al.
Journal of Neurology, 2011
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
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
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
A rare case of SPG11 mutation with multiple sclerosis.
Laurencin C et al.
Revue Neurologique, 0
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