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

J Neurol Neurosurg Psychiatry

Publication Date

16/03/2021

Keywords

ALS, genetics, neuropathology

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