Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG20
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Spartin-mediated lipid transfer facilitates lipid droplet turnover.
Wan N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Spartin-mediated lipid transfer facilitates lipid droplet turnover.
Wan N et al.
Biorxiv : the Preprint Server for Biology, 2023
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Ahmadnia N et al.
Iranian Journal of Child Neurology, 2021
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.
Liang H et al.
Annals of the New York Academy of Sciences, 2020
Novel SPG20 mutation in an extended family with Troyer syndrome.
Bizzari S et al.
Metabolic Brain Disease, 2017
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