| Retro-orbital injections in mice T Yardeni, M Eckhaus, HD Morris, M Huizing, S Hoogstraten-Miller Lab animal 40 (5), 155-160, 2011 | 549 | 2011 |
| Host mitochondria influence gut microbiome diversity: A role for ROS T Yardeni, CE Tanes, K Bittinger, LM Mattei, PM Schaefer, LN Singh, ... Science signaling 12 (588), eaaw3159, 2019 | 155 | 2019 |
| UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE): a master regulator of sialic acid synthesis R Gerardy-Schahn, P Delannoy, M von Itzstein, S Hinderlich, ... SialoGlyco Chemistry and Biology I: Biosynthesis, structural diversity and …, 2015 | 119 | 2015 |
| Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene D Bercovich, A Elimelech, J Zlotogora, S Korem, T Yardeni, N Gal, ... Journal of human genetics 53 (5), 407-418, 2008 | 76 | 2008 |
| A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency MCV Malicdan, T Vilboux, B Ben‐Zeev, J Guo, A Eliyahu, ... Human mutation 39 (1), 69-79, 2018 | 61 | 2018 |
| Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy O Barel, MCV Malicdan, B Ben-Zeev, J Kandel, H Pri-Chen, J Stephen, ... Brain 140 (3), 568-581, 2017 | 58 | 2017 |
| Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy TK Niethamer, T Yardeni, P Leoyklang, C Ciccone, A Astiz-Martinez, ... Molecular genetics and metabolism 107 (4), 748-755, 2012 | 50 | 2012 |
| Hereditary Inclusion Body Myopathy: Single Patient Response to Intravenous Dosing of GNE Gene Lipoplex G Nemunaitis, CM Jay, PB Maples, WA Gahl, M Huizing, T Yardeni, ... Human gene therapy 22 (11), 1331-1341, 2011 | 50 | 2011 |
| An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes T Yardeni, AG Cristancho, AJ McCoy, PM Schaefer, MJ McManus, ... Proceedings of the National Academy of Sciences 118 (6), e2021429118, 2021 | 40 | 2021 |
| The Gne M712T mouse as a model for human glomerulopathy S Kakani, T Yardeni, J Poling, C Ciccone, T Niethamer, ED Klootwijk, ... The American journal of pathology 180 (4), 1431-1440, 2012 | 39 | 2012 |
| A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population D Bercovich, A Elimelech, T Yardeni, S Korem, J Zlotogora, N Gal, ... Annals of human genetics 72 (3), 305-309, 2008 | 38 | 2008 |
| Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria N Kurochkina, T Yardeni, M Huizing Glycobiology 20 (3), 322-337, 2010 | 36 | 2010 |
| Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase T Yardeni, T Choekyi, K Jacobs, C Ciccone, K Patzel, Y Anikster, WA Gahl, ... Biochemistry 50 (41), 8914-8925, 2011 | 32 | 2011 |
| High content image analysis reveals function of miR-124 upstream of Vimentin in regulating motor neuron mitochondria T Yardeni, R Fine, Y Joshi, T Gradus-Pery, N Kozer, I Reichenstein, ... Scientific reports 8 (1), 59, 2018 | 29 | 2018 |
| Sialylation of Thomsen–Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy P Leoyklang, MC Malicdan, T Yardeni, F Celeste, C Ciccone, X Li, ... Biomarkers in medicine 8 (5), 641-652, 2014 | 22 | 2014 |
| Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation PM Schaefer, L Scherer Alves, M Lvova, J Huang, K Rathi, K Janssen, ... Proceedings of the National Academy of Sciences 119 (45), e2212417119, 2022 | 18 | 2022 |
| Non-specific accumulation of glycosphingolipids in GNE myopathy KA Patzel, T Yardeni, E Le Poëc-Celic, P Leoyklang, H Dorward, ... Journal of inherited metabolic disease 37, 297-308, 2014 | 15 | 2014 |
| Nicotinamide riboside alleviates exercise intolerance in ANT1-deficient mice PM Schaefer, J Huang, A Butic, C Perry, T Yardeni, W Tan, R Morrow, ... Molecular Metabolism 64, 101560, 2022 | 13 | 2022 |
| Rationale and design for a phase 1 study of N-acetylmannosamine for primary glomerular diseases M Huizing, T Yardeni, F Fuentes, MCV Malicdan, P Leoyklang, A Volkov, ... Kidney International Reports 4 (10), 1454-1462, 2019 | 12 | 2019 |
| DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients R Shapiro, Y Anikster, T Yardeni, S Korem, K Hartman, R Shamir, ... Journal of human genetics 55 (5), 308-313, 2010 | 11 | 2010 |