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Molecular Genetics and Metabolism|April 13, 2010
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficienciesSaskia J G Hoefs, Ola H Skjeldal, Richard J Rodenburg, et al.European Journal of Obstetrics, Gynecology, and Reproductive Biology|September 23, 2021
The windsor definition for hyperemesis gravidarum: A multistakeholder international consensus definitionL A W Jansen, M H Koot, J Van't Hooft, et al.Mitochondrion|February 23, 2018
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)Karien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.EMBO Molecular Medicine|November 19, 2016
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathwayMarcello Ziosi, Ivano Di Meo, Giulio Kleiner, et al.European Journal of Human Genetics : EJHG|June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesisElke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.American Journal of Human Genetics|October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsJan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.European Journal of Medical Genetics|November 14, 2018
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11Karit Reinson, Reka Kovacs-Nagy, Eve Õiglane-Shlik, et al.European Journal of Pediatrics|September 8, 2006
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutationsMaaike C de Vries, Richard J Rodenburg, Eva Morava, et al.Journal of the American College of Cardiology|April 5, 2023
Prolonged Moderate-Intensity Exercise Does Not Increase Muscle Injury Markers in Symptomatic or Asymptomatic Statin UsersNeeltje A E Allard, Lando Janssen, Bart Lagerwaard, et al.American Journal of Human Genetics|June 3, 2008
NDUFA2 complex I mutation leads to Leigh diseaseSaskia J G Hoefs, Cindy E J Dieteren, Felix Distelmaier, et al.Pageof 22