Pitceathly, Robert D.S.

Top Publications

Top Publications Authored or Co-Authored by "Pitceathly, Robert D.S."

• MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

  EBioMedicine, Volume 30, Year 2018, Citations 47
• Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

  Journal of Neurology, Neurosurgery and Psychiatry, Volume 85, No. 5, Year 2014, Citations 39
• Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry

  European Journal of Neurology, Volume 30, No. 2, Year 2023, Citations 20
• Toward a mtDNA locus-specific mutation database using the LOVD platform

  Human Mutation, Volume 33, No. 9, Year 2012, Citations 13
• Neuromuscular disease genetics in under-represented populations: increasing data diversity

  Brain, Volume 146, No. 12, Year 2023