Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genet Med
; 24(10): 2079-2090, 2022 10.
Article
in En
| MEDLINE
| ID: mdl-35986737
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spastic Paraplegia, Hereditary
/
Cerebellar Ataxia
/
Optic Atrophy
/
Spinocerebellar Ataxias
/
Ubiquitin Thiolesterase
Limits:
Humans
Language:
En
Journal:
Genet Med
Journal subject:
GENETICA MEDICA
Year:
2022
Document type:
Article
Affiliation country:
Alemania
Country of publication:
Estados Unidos