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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. 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
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation.
Miyauchi A, Osaka H, Nagashima M, Kuwajima M, Monden Y, Kohda M, Kishita Y, Okazaki Y, Murayama K, Ohtake A, Yamagata T. Miyauchi A, et al. Among authors: kuwajima m. Brain Dev. 2018 Jun;40(6):498-502. doi: 10.1016/j.braindev.2018.02.007. Epub 2018 Mar 3. Brain Dev. 2018. PMID: 29506883
Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency.
Onuki Y, Ono S, Nakajima T, Kojima K, Taga N, Ikeda T, Kuwajima M, Kurokawa Y, Kato M, Kawai K, Osaka H, Sato T, Muramatsu SI, Yamagata T. Onuki Y, et al. Among authors: kuwajima m. Brain Commun. 2021 Apr 15;3(3):fcab078. doi: 10.1093/braincomms/fcab078. eCollection 2021. Brain Commun. 2021. PMID: 34423296 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. 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.
197 results