Donald S. McCorquodale

TL;DR: This study shows how the relationship between common inherited genetic variants and brain transcript expression can be used in the study of human brain disorders and suggests that studying the transcriptome as a quantitative endo-phenotype has greater power for discovering risk SNPs influencing expression than the use of discrete diagnostic categories.

TL;DR: The results suggest significant extranigral involvement in VH, and the precise etiopathologic mechanisms responsible for the development of VH need further clarification.

TL;DR: The top gene reported here is the nuclear encoded MRPS6, a building block of the human mitoribosome of the oxidative phosphorylation system (OXPHOS), which has been linked to the pathogenesis of PD.

TL;DR: Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia and its role in disease progression is studied.

TL;DR: To further investigate the prevalence of MFN2 mutations and to add to the genotypic spectrum, all exons ofMFN2 were sequenced in a cohort of 39 CMT2 patients and seven variants were identified, four of which are novel.