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Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.
Mitochondrion. 2024 May;76:101858. doi: 10.1016/j.mito.2024.101858. Epub 2024 Mar 2.
Mitochondrion. 2024.
PMID: 38437941
Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy.
Kao HY, Yao Y, Yang T, Ziobro J, Zylinski M, Mir MY, Hu S, Cao R, Borna NN, Banerjee R, Parent JM, Wang S, Leventhal DK, Li P, Wang Y.
Kao HY, et al. Among authors: borna nn.
Ann Neurol. 2023 Nov;94(5):812-824. doi: 10.1002/ana.26773. Epub 2023 Sep 7.
Ann Neurol. 2023.
PMID: 37606181
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Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.
Borna NN, Kishita Y, Sakai N, Hamada Y, Kamagata K, Kohda M, Ohtake A, Murayama K, Okazaki Y.
Borna NN, et al.
Genes (Basel). 2020 Nov 9;11(11):1325. doi: 10.3390/genes11111325.
Genes (Basel). 2020.
PMID: 33182419
Free PMC article.
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NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.
Borna NN, Kishita Y, Abe J, Furukawa T, Ogawa-Tominaga M, Fushimi T, Imai-Okazaki A, Takeda A, Ohtake A, Murayama K, Okazaki Y.
Borna NN, et al.
Brain. 2020 Jul 1;143(7):e54. doi: 10.1093/brain/awaa130.
Brain. 2020.
PMID: 32462209
No abstract available.
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Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.
Borna NN, Kishita Y, Kohda M, Lim SC, Shimura M, Wu Y, Mogushi K, Yatsuka Y, Harashima H, Hisatomi Y, Fushimi T, Ichimoto K, Murayama K, Ohtake A, Okazaki Y.
Borna NN, et al.
Neurogenetics. 2019 Mar;20(1):9-25. doi: 10.1007/s10048-018-0561-9. Epub 2019 Jan 3.
Neurogenetics. 2019.
PMID: 30607703
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A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.
Borna NN, Kishita Y, Ishikawa K, Nakada K, Hayashi JI, Tokuzawa Y, Kohda M, Nyuzuki H, Yamashita-Sugahara Y, Nasu T, Takeda A, Murayama K, Ohtake A, Okazaki Y.
Borna NN, et al.
J Hum Genet. 2017 Apr;62(5):539-547. doi: 10.1038/jhg.2016.165. Epub 2017 Jan 26.
J Hum Genet. 2017.
PMID: 28123175
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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y.
Kohda M, et al. Among authors: borna nn.
PLoS Genet. 2016 Jan 7;12(1):e1005679. doi: 10.1371/journal.pgen.1005679. eCollection 2016 Jan.
PLoS Genet. 2016.
PMID: 26741492
Free PMC article.
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