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EMBO Molecular Medicine|November 20, 2024
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial diseaseLindsey Van Haute, Petra Páleníková, Jia Xin Tang, et al.American Journal of Human Genetics|August 2, 2007
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson, Valerio Carelli, Liesbeth Spruijt, et al.Nature|May 25, 2022
Defining mitochondrial protein functions through deep multiomic profilingJarred W Rensvold, Evgenia Shishkova, Yuriy Sverchkov, et al.JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.The New England Journal of Medicine|July 17, 2025
Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA DiseaseLouise A Hyslop, Emma L Blakely, Magomet Aushev, et al.Brain : a Journal of Neurology|September 2, 2009
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyRita Horvath, John P Kemp, Helen A L Tuppen, et al.Nature Cancer|October 19, 2020
Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesisAnna Lm Smith, Julia C Whitehall, Carla Bradshaw, et al.The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.Brain : a Journal of Neurology|December 27, 2013
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathyCarla Giordano, Luisa Iommarini, Luca Giordano, et al.Brain : a Journal of Neurology|April 15, 2014
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceGerald Pfeffer, Gráinne S Gorman, Helen Griffin, et al.Pageof 10