Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP.
Matthew NolanPaola BarbagalloMatthew C KiernanMichael John KeoghPatrick F ChinneryKevin TalbotOlaf AnsorgePublished in: Journal of neurology, neurosurgery, and psychiatry (2021)
Keyphrases