Publications

Lin P et al. Mutations in UBAP1 cause hereditary spastic paraplegia type 80.Am J Hum Genet. 2019;104(6):1036–1047. PMID: 31155274.

Shao Q et al. Identification of novel UBAP1 variants and genotype-phenotype correlations in SPG80. Hum Mutat. 2020;41(11):2000–2012. PMID: 32743738.

Gu S et al. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.Hum Mutat. 2020 Mar;41(3):632-640. PMID: 31696996.

Wu D et al. UBAP1 truncating mutations result in motor neuron dysfunction via disrupted endosomal pathways. Brain. 2021;144(2):e30. PMID: 33561292.

Sun M et al. Clinical and functional characterization of UBAP1 variants in hereditary spastic paraplegia. J Med Genet. 2021;58(10):675–684. PMID: 33619090.