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NPJ Genomic Medicine|October 20, 2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotypeNeringa Jurkute, Francesca Cancellieri, Lisa Pohl, et al.Neurology|August 31, 2012
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth diseaseRobert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, et al.Neurology. Genetics|May 17, 2017
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial diseaseEnrico Bugiardini, Olivia V Poole, Andreea Manole, et al.Brain : a Journal of Neurology|October 21, 2017
Clinical, pathological and functional characterization of riboflavin-responsive neuropathyAndreea Manole, Zane Jaunmuktane, Iain Hargreaves, et al.European Journal of Human Genetics : EJHG|May 30, 2013
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneJohanna Uusimaa, Julie Evans, Conrad Smith, et al.Cell Metabolism|March 13, 2012
Fumarate is cardioprotective via activation of the Nrf2 antioxidant pathwayHouman Ashrafian, Gabor Czibik, Mohamed Bellahcene, et al.Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.Pageof 5