Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS–TDP

Nolan M., Barbagallo P., Turner MR., Keogh MJ., Chinnery PF., Talbot K., Ansorge O.

DOI

10.1136/jnnp-2020-325803

Type

Journal article

Journal

Journal of Neurology, Neurosurgery & Psychiatry

Publisher

BMJ

Publication Date

16/03/2021

Permalink Original publication