Associated Papers
Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review.
Zhang C et al.
Frontiers in Neurology, 2022
A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation.
Li P et al.
Frontiers in Genetics, 2022
Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.
Bian X et al.
Plos One, 2021
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.
Nan H et al.
Journal of Human Genetics, 2019
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