📣 Help Shape the Future of UKRI's Gateway to Research (GtR)

We're improving UKRI's Gateway to Research and are seeking your input! If you would be interested in being interviewed about the improvements we're making and to have your say about how we can make GtR more user-friendly, impactful, and effective for the Research and Innovation community, please email gateway@ukri.org.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (2022)

First Author: Park J

Attributed to: Investigation of the function of the ER/mitochondria contact sites in cell physiology and disease funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1016/j.gim.2022.07.006

Publication URI: http://dx.doi.org/10.1016/j.gim.2022.07.006

Type: Journal Article/Review

Parent Publication: Genetics in Medicine

Issue: 10