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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.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 25, 2010
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiencyCatarina M Quinzii, Luis C López, Robert W Gilkerson, et al.Journal of Inherited Metabolic Disease|March 4, 2017
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delayEmma S Reid, Hywel Williams, Glenn Anderson, et al.Advanced Genetics (Hoboken, N.J.)|March 23, 2022
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial DiseaseAmel Karaa, Laura E MacMullen, John C Campbell, et al.Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem DiseaseSaskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.Cell Reports|June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseRobert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.Pageof 16