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Journal of Medical Genetics|January 15, 2013
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathyChristopher J Carroll, Pirjo Isohanni, Rosanna Pöyhönen, et al.EMBO Molecular Medicine|October 31, 2018
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkersJana Buzkova, Joni Nikkanen, Sofia Ahola, et al.Plos Medicine|March 14, 2008
Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesityKirsi H Pietiläinen, Jussi Naukkarinen, Aila Rissanen, et al.Nature Metabolism|August 12, 2020
Author Correction: Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progeriasRiikka H Hämäläinen, Juan C Landoni, Kati J Ahlqvist, et al.Nature Metabolism|July 23, 2020
Defects in mtDNA replication challenge nuclear genome stability through nucleotide depletion and provide a unifying mechanism for mouse progeriasRiikka H Hämäläinen, Juan C Landoni, Kati J Ahlqvist, et al.Journal of Inherited Metabolic Disease|August 29, 2020
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial diseaseJenni M Lehtonen, Mari Auranen, Niklas Darin, et al.Genome Biology|September 30, 2011
Comparison of solution-based exome capture methods for next generation sequencingAnna-Maija Sulonen, Pekka Ellonen, Henrikki Almusa, et al.Cell Reports|May 17, 2025
De novo serine biosynthesis is protective in mitochondrial diseaseChristopher B Jackson, Anastasiia Marmyleva, Geoffray Monteuuis, et al.EMBO Molecular Medicine|May 8, 2026
Loss of mitochondrial DNA helicase in retinal macroglia drives neovascular retinopathySofiia Olander, Sinem Karaman, Fumi Suomi, et al.Frontiers in Genetics|February 24, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylationLiliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, et al.Pageof 16