Gauthier J et al. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann Neurol. 2018;83(6):1089-1095. PMID: 29518281.
Koh K et al. VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. Mol Genet Genomic Med. 2020;8(3):e1108. PMID: 31876103.
Seong E et al. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann Neurol. 2018;83(6):1075-1088. PMID: 29604224.
VPS13D