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BCS1L mutations produce Fanconi syndrome with developmental disability.
Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K. Kanako KI, et al. Among authors: mushimoto y. J Hum Genet. 2022 Mar;67(3):143-148. doi: 10.1038/s10038-021-00984-0. Epub 2021 Oct 15. J Hum Genet. 2022. PMID: 34650211
Early predictors of status epilepticus-associated mortality and morbidity in children.
Maegaki Y, Kurozawa Y, Tamasaki A, Togawa M, Tamura A, Hirao M, Nagao A, Kouda T, Okada T, Hayashibara H, Harada Y, Urushibara M, Sugiura C, Sejima H, Tanaka Y, Matsuda-Ohtahara H, Kasai T, Kishi K, Kaji S, Toyoshima M, Kanzaki S, Ohno K; Status Epilepticus Study Group. Maegaki Y, et al. Brain Dev. 2015 May;37(5):478-86. doi: 10.1016/j.braindev.2014.08.004. Epub 2014 Sep 2. Brain Dev. 2015. PMID: 25193404
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.
Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S. Kurokawa M, et al. Among authors: mushimoto y. Mol Genet Genomic Med. 2020 Apr;8(4):e1175. doi: 10.1002/mgg3.1175. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32104981 Free PMC article.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Kido J, Matsumoto S, Ito T, Hirose S, Fukui K, Kojima-Ishii K, Mushimoto Y, Yoshida S, Ishige M, Sakai N, Nakamura K. Kido J, et al. Among authors: mushimoto y. Mol Genet Metab Rep. 2021 Feb 7;27:100724. doi: 10.1016/j.ymgmr.2021.100724. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33614409 Free PMC article.
Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy.
Yada Y, Torio M, Koga Y, Yamashita F, Ichimura T, Eguchi K, Ishimura M, Mushimoto Y, Hiwatashi A, Sasazuki M, Kira R, Sakai Y, Ohga S. Yada Y, et al. Among authors: mushimoto y. Mol Genet Metab Rep. 2021 Jun 24;28:100778. doi: 10.1016/j.ymgmr.2021.100778. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34221897 Free PMC article.
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype.
Yamada K, Osawa Y, Kobayashi H, Bo R, Mushimoto Y, Hasegawa Y, Yamaguchi S, Taketani T. Yamada K, et al. Among authors: mushimoto y. Mol Genet Metab Rep. 2022 Nov 14;33:100940. doi: 10.1016/j.ymgmr.2022.100940. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36406819 Free PMC article.
33 results