L. E. Hjermind

Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

Decoding ALS: from genes to mechanism

Parkinson's disease

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations

Oxidative stress, mitochondrial damage and neurodegenerative diseases.

No muscle involvement in myoclonus‐dystonia caused by ɛ‐sarcoglycan gene mutations

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease