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Brain : a Journal of Neurology|December 22, 2018
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J Van Bergen, Yiran Guo, Julia Rankin, et al.Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.The EMBO Journal|October 31, 2020
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiencyDenisa Hathazi, Helen Griffin, Matthew J Jennings, et al.American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.American Journal of Human Genetics|September 2, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvementRauan Kaiyrzhanov, Sami E M Mohammed, Reza Maroofian, et al.Pageof 10