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Last Updated: 10/31/2025
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Found 44 publications
Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.
Journal: Gene
Published: April 08, 2025
Spastic paraplegia with short stature: Think of Troyer syndrome.
Journal: Acta neurologica Belgica
Published: May 18, 2024
Spartin is a Lipid Transfer Protein That Facilitates Lipid Droplet Turnover.
Journal: Contact (Thousand Oaks (Ventura County, Calif.))
Published: March 23, 2024
Spartin-mediated lipid transfer facilitates lipid droplet turnover.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 08, 2024
Spartin-mediated lipid transfer facilitates lipid droplet turnover.
Journal: bioRxiv : the preprint server for biology
Published: December 11, 2023
Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH.
Journal: Molecular cell
Published: October 25, 2023
Spartin: At the crossroad between ubiquitination and metabolism in cancer.
Journal: Biochimica et biophysica acta. Reviews on cancer
Published: August 18, 2022
The perinatal phenotype of Troyer syndrome: Case report and literature review.
Journal: American journal of medical genetics. Part A
Published: June 27, 2022
Methylation Heterogeneity and Gene Expression of SPG20 in Solid Tumors.
Journal: Genes
Published: April 22, 2022
The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets.
Journal: Nature cell biology
Published: March 21, 2022
An unusual case with genetic transition in a rehabilitation clinic: Troyer syndrome.
Journal: Turkish journal of physical medicine and rehabilitation
Published: August 08, 2020
Last Updated: 10/31/2025