| Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy A Saada, A Shaag, H Mandel, Y Nevo, S Eriksson, O Elpeleg Nature genetics 29 (3), 342-344, 2001 | 695 | 2001 |
| The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA H Mandel, R Szargel, V Labay, O Elpeleg, A Saada, A Shalata, ... Nature genetics 29 (3), 337-341, 2001 | 645 | 2001 |
| Deleterious mutation in the mitochondrial arginyl–transfer RNA synthetase gene is associated with pontocerebellar hypoplasia S Edvardson, A Shaag, O Kolesnikova, JM Gomori, I Tarassov, ... The American Journal of Human Genetics 81 (4), 857-862, 2007 | 386 | 2007 |
| Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion O Elpeleg, C Miller, E Hershkovitz, M Bitner-Glindzicz, ... The American Journal of Human Genetics 76 (6), 1081-1086, 2005 | 378 | 2005 |
| Control of pancreatic β cell regeneration by glucose metabolism S Porat, N Weinberg-Corem, S Tornovsky-Babaey, R Schyr-Ben-Haroush, ... Cell metabolism 13 (4), 440-449, 2011 | 348 | 2011 |
| Peripheral nerve injury induces Schwann cells to express two macrophage phenotypes: phagocytosis and the galactose-specific lectin MAC-2 F Reichert, A Saada, S Rotshenker Journal of Neuroscience 14 (5), 3231-3245, 1994 | 299 | 1994 |
| Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation C Miller, A Saada, N Shaul, N Shabtai, E Ben‐Shalom, A Shaag, ... Annals of Neurology: Official Journal of the American Neurological …, 2004 | 263 | 2004 |
| Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood A Zeharia, A Shaag, RH Houtkooper, T Hindi, P de Lonlay, G Erez, ... The American Journal of Human Genetics 83 (4), 489-494, 2008 | 260 | 2008 |
| Acute infantile liver failure due to mutations in the TRMU gene A Zeharia, A Shaag, O Pappo, AM Mager-Heckel, A Saada, M Beinat, ... The American Journal of Human Genetics 85 (3), 401-407, 2009 | 250 | 2009 |
| Large-scale implementation of pooled RNA extraction and RT-PCR for SARS-CoV-2 detection R Ben-Ami, A Klochendler, M Seidel, T Sido, O Gurel-Gurevich, ... Clinical Microbiology and Infection 26 (9), 1248-1253, 2020 | 225 | 2020 |
| Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia S Edvardson, H Hama, A Shaag, JM Gomori, I Berger, D Soffer, ... The American Journal of Human Genetics 83 (5), 643-648, 2008 | 210 | 2008 |
| Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain H Zigdon, A Kogot-Levin, JW Park, R Goldschmidt, S Kelly, AH Merrill, ... Journal of Biological Chemistry 288 (7), 4947-4956, 2013 | 208 | 2013 |
| Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs JAM Smeitink, O Elpeleg, H Antonicka, H Diepstra, A Saada, P Smits, ... The American Journal of Human Genetics 79 (5), 869-877, 2006 | 201 | 2006 |
| Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease A Saada, RO Vogel, SJ Hoefs, MA van den Brand, HJ Wessels, ... The American Journal of Human Genetics 84 (6), 718-727, 2009 | 199 | 2009 |
| C6ORF66 is an assembly factor of mitochondrial complex I A Saada, S Edvardson, M Rapoport, A Shaag, K Amry, C Miller, ... The American Journal of Human Genetics 82 (1), 32-38, 2008 | 196 | 2008 |
| Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation A Saada, A Shaag, S Arnon, T Dolfin, C Miller, D Fuchs-Telem, A Lombes, ... Journal of medical genetics 44 (12), 784-786, 2007 | 184 | 2007 |
| Weaning triggers a maturation step of pancreatic β cells M Stolovich-Rain, J Enk, J Vikesa, FC Nielsen, A Saada, B Glaser, Y Dor Developmental cell 32 (5), 535-545, 2015 | 169 | 2015 |
| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 161 | 2021 |
| Ceramide and the mitochondrial respiratory chain A Kogot-Levin, A Saada Biochimie 100, 88-94, 2014 | 160 | 2014 |
| Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells S Tornovsky-Babeay, D Dadon, O Ziv, E Tzipilevich, T Kadosh, ... Cell metabolism 19 (1), 109-121, 2014 | 153 | 2014 |
