Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. by Kirsten E Hoff, Karen L DeBalsi, Maria J Sanchez-Quintero, Matthew J Longley, Michio Hirano, Ali B Naini, William C Copeland

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A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male by Karen L. DeBalsi, John H. Newman, Laura J. Sommerville, John A. Phillips, Rizwan Hamid, Joy Cogan, Joshua P. Fessel, Anne M. Evans, Undiagnosed Diseases Network, Adam D. Kennedy

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Obesity and lipid stress inhibit carnitine acetyltransferase activity[S] by Sarah E. Seiler, Ola J. Martin, Robert C. Noland, Dorothy H. Slentz, Karen L. DeBalsi, Olga R. Ilkayeva, Jie An, Christopher B. Newgard, Timothy R. Koves, Deborah M. Muoio

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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder by Rulan Shaath, Aljazi Al-Maraghi, Haytham Ali, Jehan AlRayahi, Adam D. Kennedy, Karen L. DeBalsi, Sura Hussein, Najwa Elbashir, Sujitha S. Padmajeya, Sasirekha Palaniswamy, Sarah H. Elsea, Ammira A. Akil, Noha A. Yousri, Khalid A. Fakhro

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PPARγ coactivator-1α contributes to exercise-induced regulation of intramuscular lipid droplet programming in mice and humans by Timothy R. Koves, Lauren M. Sparks, J.P. Kovalik, Merrie Mosedale, Ramamani Arumugam, Karen L. DeBalsi, Karen Everingham, Leigh Thorne, Esther Phielix, Ruth C. Meex, C. Lawrence Kien, Matthijs K.C. Hesselink, Patrick Schrauwen, Deborah M. Muoio

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