Associated Papers
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris T et al.
European Journal of Human Genetics : Ejhg, 2020
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.
Wang J et al.
Neurogenetics, 2020
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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