Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, John C. Ambrose, Tobias B. Haack et al.|Genetics in Medicine|2022Cited by 20
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Tobias B. Haack, Ana Velić et al.|Genetics in Medicine|2023Cited by 4