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Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. (2020)

First Author: Steel D

Attributed to: Determining the mechanisms of nigro-striatal dysfunction in SGCE mutation positive Myoclonus Dystonia using an iPSC-derived neuronal cell model funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1002/ana.25879

PubMed Identifier: 32808683

Publication URI: http://europepmc.org/abstract/MED/32808683

Type: Journal Article/Review

Volume: 88

Parent Publication: Annals of neurology

Issue: 5

ISSN: 0364-5134