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Nature Communications|April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.Orphanet Journal of Rare Diseases|December 5, 2013
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenaseSacha Ferdinandusse, Hans R Waterham, Simon J R Heales, et al.Journal of Neurology, Neurosurgery, and Psychiatry|August 31, 2012
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutationsRobert D S Pitceathly, Susan E Tomlinson, Iain Hargreaves, et al.Plos One|January 7, 2016
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial DiseaseSanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, et al.European Radiology|May 22, 2015
Extra-ocular muscle MRI in genetically-defined mitochondrial diseaseRobert D S Pitceathly, Jasper M Morrow, Christopher D J Sinclair, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 20, 2018
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutationsOmar Hikmat, Charalampos Tzoulis, Wui K Chong, et al.Brain : a Journal of Neurology|July 1, 2015
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fissionRojeen Shahni, Catherine M Cale, Glenn Anderson, et al.Journal of Inherited Metabolic Disease|May 12, 2020
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 casesOmar Hikmat, Karin Naess, Martin Engvall, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2017
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutationsOmar Hikmat, Charalampos Tzoulis, Wui K Chong, et al.Annals of Clinical and Translational Neurology|September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG diseaseOmar Hikmat, Karin Naess, Martin Engvall, et al.Pageof 17