| Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder MW Friederich, S Timal, CA Powell, C Dallabona, A Kurolap, ... Nature communications 9 (1), 4065, 2018 | 52 | 2018 |
| New insights into the phenotype of FARS2 deficiency E Vantroys, A Larson, M Friederich, K Knight, MA Swanson, CA Powell, ... Molecular Genetics and Metabolism 122 (4), 172-181, 2017 | 49 | 2017 |
| Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement MW Friederich, FA Perez, KM Knight, RA Van Hove, SP Yang, RP Saneto, ... Molecular genetics and metabolism 129 (3), 236-242, 2020 | 17 | 2020 |
| Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect MW Friederich, GC Geddes, SB Wortmann, A Punnoose, E Wartchow, ... Molecular genetics and metabolism 133 (4), 362-371, 2021 | 14 | 2021 |
| The mitochondrial DNA variant m. 9032T> C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome KM Knight, E Shelkowitz, AA Larson, DM Mirsky, Y Wang, T Chen, ... Mitochondrion 55, 8-13, 2020 | 6 | 2020 |
| Activity-dependent mitochondrial ROS signaling regulates recruitment of glutamate receptors to synapses RL Doser, KM Knight, EW Deihl, FJ Hoerndli Elife 13, e92376, 2024 | 5 | 2024 |
| A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype KA Kripps, MW Friederich, T Chen, AA Larson, DM Mirsky, Y Wang, ... Molecular genetics and metabolism 131 (4), 398-404, 2020 | 3 | 2020 |
| A Necessary Role for PKC-2 and TPA-1 in Olfactory Memory and Synaptic AMPAR Trafficking in Caenorhabditis elegans AL Stetak, T Grenal, Z Lenninger, KM Knight, RL Doser, FJ Hoerndli Journal of Neuroscience 44 (10), 2024 | 2 | 2024 |
| Subcellular imaging of neuronal calcium handling in vivo R Doser, KM Knight, E Deihl, F Hoerndli Journal of visualized experiments: JoVE, 10.3791/64928, 2023 | 1 | 2023 |
| A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility J Van Hove, M Friederich, K Knight, J Lee, R Van Hove, A Larson, ... XIV International Congress of Inborn Errors 44 (S1), 139-140, 2021 | 1 | 2021 |
| A Dual Role for LAR-RPTP in Regulating Long-distance Transport and Synaptic Retention of AMPARs, Essential for Long Term Associative Memory DM Pierce, Z Lenninger, RL Doser, KM Knight, A Stetak, FJ Hoerndli bioRxiv, 2022.08. 11.503694, 2022 | | 2022 |
| CHARACTERIZATION OF A NEW NONKETOTIC HYPERGLYCINEMIA MOUSE MODEL WITH AN UNSTABLE MISSENSE MUTATION IN GLDC MA Swanson, L Rodriguez, H Jiang, K Knight, M Friederich, N Greene, ... MOLECULAR GENETICS AND METABOLISM 123 (3), 210-211, 2018 | | 2018 |
| New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial … K Knight, MW Friederich, R Van Coster, J Smet, E Vantroys, M Hirano, ... 40th Annual meeting of the Society for Inherited Metabolic Disorders (SIMD …, 2018 | | 2018 |
