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Page 1
Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy.
Ann Neurol. 2023 Nov;94(5):812-824. doi: 10.1002/ana.26773. Epub 2023 Sep 7.
Ann Neurol. 2023.
PMID: 37606181
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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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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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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Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.
Borna NN, Kishita Y, Shimura M, Murayama K, Ohtake A, Okazaki Y.
Borna NN, et al.
Mitochondrion. 2024 Mar 2;76:101858. doi: 10.1016/j.mito.2024.101858. Online ahead of print.
Mitochondrion. 2024.
PMID: 38437941
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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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