Skip to Main Content

Paper Details

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
Proc Natl Acad Sci U S A
127
2013
C, GLU7ALA, UCHL1, UCHL1 hydrolase, Ubiquitin C-terminal hydrolase-L1, blindness, cerebellar ataxia, childhood onset, cleft of UCHL1, dorsal column dysfuction, hydrolase, neurodegeneration, neuronal ubiquitin hydrolase UCHL1, nystagmus, progressive neurodegenerative syndrome, spasticity, ubiquitin, upper motor neuron dysfunction
Author NameAffiliation
Kaya BilguvarYale School of Medicine
  • 1 - 1

Datasets

Release 1.2