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Journal of Inherited Metabolic Disease|October 30, 2014
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of diseaseAlexander Broomfield, Mary G Sweeney, Cathy E Woodward, et al.Human Reproduction (Oxford, England)|April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gammaAlistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.Journal of Inherited Metabolic Disease|July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshopSaskia Koene, Lara van Bon, Enrico Bertini, et al.Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.Journal of Medical Genetics|November 28, 2019
Cardiac valve involvement in ADAR-related type I interferonopathyYanick Crow, Nandaki Keshavan, Jacques Patrick Barbet, et al.Journal of Inherited Metabolic Disease|May 11, 2022
Research priorities for mitochondrial disorders: Current landscape and patient and professional viewsRhys H Thomas, Amy Hunter, Lyndsey Butterworth, et al.American Journal of Human Genetics|April 21, 2009
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseAndrew J Duncan, Maria Bitner-Glindzicz, Brigitte Meunier, et al.Nature Communications|July 24, 2020
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.Journal of Inherited Metabolic Disease|October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and CareAnja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.Pageof 17