Associated Papers
Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.
Bian X et al.
Plos One, 2021
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
32934340 (PubMed )
Supplement: 41431_2020_720_MOESM1_ESM.xlsx › Supplementary_Table_1
Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.
Wang J et al.
Neurogenetics, 2020
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA et al.
American Journal of Human Genetics, 2019
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