MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder 2016

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region 2012

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31 2006

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study 2003

Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease 2003

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations [meta-analysis] 2013