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MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.
Kuwajima M, Goto M, Kurane K, Shimbo H, Omika N, Jimbo EF, Muramatsu K, Tajika M, Shimura M, Murayama K, Kurosawa K, Yamagata T, Osaka H. Kuwajima M, et al. Among authors: muramatsu k. Brain Dev. 2019 May;41(5):465-469. doi: 10.1016/j.braindev.2019.01.006. Epub 2019 Feb 7. Brain Dev. 2019. PMID: 30739820
Brainstem infarction associated with HHV-6 infection in an infant.
Wada A, Muramatsu K, Sunaga Y, Mizuno T, Takei M, Ogasawara S, Uchida M, Tsukida K, Tashiro M. Wada A, et al. Among authors: muramatsu k. Brain Dev. 2018 Mar;40(3):242-246. doi: 10.1016/j.braindev.2017.09.005. Epub 2017 Sep 25. Brain Dev. 2018. PMID: 28958731
Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1.
Kurokawa Y, Osaka H, Kouga T, Jimbo E, Muramatsu K, Nakamura S, Takayanagi Y, Onaka T, Muramatsu SI, Yamagata T. Kurokawa Y, et al. Among authors: muramatsu k, muramatsu si. Hum Gene Ther. 2021 Jun;32(11-12):589-598. doi: 10.1089/hum.2020.175. Epub 2021 Feb 22. Hum Gene Ther. 2021. PMID: 33256498 Free PMC article.
Valine metabolites analysis in ECHS1 deficiency.
Kuwajima M, Kojima K, Osaka H, Hamada Y, Jimbo E, Watanabe M, Aoki S, Sato-Shirai I, Ichimoto K, Fushimi T, Murayama K, Ohtake A, Kohda M, Kishita Y, Yatsuka Y, Uchino S, Mimaki M, Miyake N, Matsumoto N, Okazaki Y, Ogata T, Yamagata T, Muramatsu K. Kuwajima M, et al. Among authors: muramatsu k. Mol Genet Metab Rep. 2021 Oct 9;29:100809. doi: 10.1016/j.ymgmr.2021.100809. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34667719 Free PMC article.
710 results