Gorman, Gráinne S.

Top Publications

Top Publications Authored or Co-Authored by "Gorman, Gráinne S."

• Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

  Neuromuscular Disorders, Volume 25, No. 7, Year 2015, Citations 64
• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

  American Journal of Human Genetics, Volume 103, No. 2, Year 2018, Citations 58
• MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

  EBioMedicine, Volume 30, Year 2018, Citations 47
• Habitual physical activity in mitochondrial disease

  PLoS ONE, Volume 6, No. 7, Article e22294, Year 2011, Citations 39
• RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

  Journal of Clinical Investigation, Volume 132, No. 13, Article e145660, Year 2022, Citations 24