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The Journal of Pediatrics|August 23, 2020
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory ChainKarin Naess, Helene Bruhn, Henrik Stranneheim, et al.Diabetes|February 14, 2019
Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on PyruvateYurika Katsu-Jiménez, Carmela Vázquez-Calvo, Camilla Maffezzini, et al.Nature|August 23, 2013
Germline mitochondrial DNA mutations aggravate ageing and can impair brain developmentJaime M Ross, James B Stewart, Erik Hagström, et al.Molecular Genetics & Genomic Medicine|March 29, 2019
Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathyCamilla Maffezzini, Isabelle Laine, Cristina Dallabona, et al.Molecular Genetics and Metabolism|May 30, 2017
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeuticsDiran Herebian, Annette Seibt, Sander H J Smits, et al.Neurology. Genetics|March 18, 2021
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal PolyneuropathyHelene Bruhn, Kristin Samuelsson, Florian A Schober, et al.Plos Genetics|August 1, 2019
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivoAleksandra Pajak, Isabelle Laine, Paula Clemente, et al.Cell Reports|September 15, 2016
A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial DiseaseJohanna H K Kauppila, Holly L Baines, Ana Bratic, et al.Stem Cell Reports|March 5, 2019
SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal NeurodifferentiationJavier Calvo-Garrido, Camilla Maffezzini, Florian A Schober, et al.Nucleic Acids Research|August 10, 2019
C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesisShreekara Gopalakrishna, Sarah F Pearce, Adam M Dinan, et al.Pageof 5