Associated Papers
Identifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.
Duzenli T et al.
Clinical Genetics, 2026
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG90
Human genetic defects of sphingolipid synthesis.
Dubot P et al.
Journal of Inherited Metabolic Disease, 2025
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S et al.
Brain : a Journal of Neurology, 2023
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