| A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies M Kohda, Y Tokuzawa, Y Kishita, H Nyuzuki, Y Moriyama, Y Mizuno, ... PLoS genetics 12 (1), e1005679, 2016 | 307 | 2016 |
| Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome NN Borna, Y Kishita, M Kohda, SC Lim, M Shimura, Y Wu, K Mogushi, ... neurogenetics 20, 9-25, 2019 | 57 | 2019 |
| Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL NN Borna, Y Kishita, N Sakai, Y Hamada, K Kamagata, M Kohda, ... Genes 11 (11), 1325, 2020 | 12 | 2020 |
| NAD (P) HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness NN Borna, Y Kishita, J Abe, T Furukawa, M Ogawa-Tominaga, T Fushimi, ... Brain 143 (7), e54-e54, 2020 | 9 | 2020 |
| A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy NN Borna, Y Kishita, K Ishikawa, K Nakada, JI Hayashi, Y Tokuzawa, ... Journal of human genetics 62 (5), 539-547, 2017 | 8 | 2017 |
| Genotyping of high risk human papillomavirus (HPV) among cervical precancer and cancer patients NN Borna, S Tabassum, M Jahan, SU Munshi, A Unnesa Acta Medica International 2 (1), 19-28, 2015 | 7 | 2015 |
| Sudden unexpected death in epilepsy and respiratory defects in a mouse model of DEPDC5‐related epilepsy HY Kao, Y Yao, T Yang, J Ziobro, M Zylinski, MY Mir, S Hu, R Cao, ... Annals of neurology 94 (5), 812-824, 2023 | 4 | 2023 |
| Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene NN Borna, Y Kishita, M Shimura, K Murayama, A Ohtake, Y Okazaki Mitochondrion 76, 101858, 2024 | | 2024 |
| A typical phenotypes due to NDUFV1 mutations. NN Borna, Y Okazaki Pediatric Urology Case Reports 8 (5), 107-113, 2021 | | 2021 |
