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Year Number of Results
2013 2
2014 3
2015 5
2016 2
2017 3
2018 3
2019 5
2020 1
2021 3
2022 1
2023 2
2024 1

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26 results

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Page 1
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: jimbo e. 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.
The ATRX splicing variant c.21-1G>A is asymptomatic.
Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo EF, Saitsu H, Matsumoto N, Yamagata T. Kojima K, et al. Among authors: jimbo ef. Hum Genome Var. 2022 Sep 14;9(1):33. doi: 10.1038/s41439-022-00212-x. Hum Genome Var. 2022. PMID: 36104326 Free PMC article.
6q21-22 deletion syndrome with interrupted aortic arch.
Matsumoto A, Nozaki Y, Minami T, Jimbo EF, Shiraishi H, Yamagata T. Matsumoto A, et al. Among authors: jimbo ef. Hum Genome Var. 2015 Jun 11;2:15015. doi: 10.1038/hgv.2015.15. eCollection 2015. Hum Genome Var. 2015. PMID: 27081529 Free PMC article.
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: jimbo e. 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.
Miglustat therapy in a case of early-infantile Niemann-Pick type C.
Usui M, Miyauchi A, Nakano Y, Nakamura S, Jimbo E, Itamura S, Adachi K, Nanba E, Narita A, Yamagata T, Osaka H. Usui M, et al. Among authors: jimbo e. Brain Dev. 2017 Nov;39(10):886-890. doi: 10.1016/j.braindev.2017.05.006. Epub 2017 Jun 3. Brain Dev. 2017. PMID: 28587793
26 results