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Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Harrer P, Schalk A, Shimura M, Baer S, Calmels N, Spitz MA, Warde MA, Schaefer E, Kittke VMS, Dincer Y, Wagner M, Dzinovic I, Berutti R, Sato T, Shirakawa T, Okazaki Y, Murayama K, Oexle K, Prokisch H, Mall V, Melčák I, Winkelmann J, Zech M. Harrer P, et al. Among authors: shimura m. Ann Neurol. 2023 Feb;93(2):330-335. doi: 10.1002/ana.26544. Epub 2022 Nov 18. Ann Neurol. 2023. PMID: 36333996
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.
Kadoya T, Sakakibara A, Kitayama K, Yamada Y, Higuchi S, Kawakita R, Kawasaki Y, Fujino M, Murakami Y, Shimura M, Murayama K, Ohtake A, Okazaki Y, Koga Y, Yorifuji T. Kadoya T, et al. Among authors: shimura m. J Pediatr Endocrinol Metab. 2019 Oct 25;32(10):1181-1185. doi: 10.1515/jpem-2019-0205. J Pediatr Endocrinol Metab. 2019. PMID: 31473688
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E, Fushimi T, Ogawa-Tominaga M, Shimura M, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Kishita Y, Kohda M, Imai-Okazaki A, Okazaki Y, Morioka I, Ohtake A, Murayama K. Ogawa E, et al. Among authors: shimura m. J Inherit Metab Dis. 2020 Jul;43(4):819-826. doi: 10.1002/jimd.12218. Epub 2020 Feb 10. J Inherit Metab Dis. 2020. PMID: 31967322 Free PMC article.
Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy.
Liu Z, Shimura M, Zhang L, Zhang W, Wang J, Ogawa-Tominaga M, Wang J, Wang X, Lv J, Shi W, Zhang VW, Murayama K, Fang F. Liu Z, et al. Among authors: shimura m. Mitochondrion. 2021 Mar;57:222-229. doi: 10.1016/j.mito.2020.12.014. Epub 2021 Jan 2. Mitochondrion. 2021. PMID: 33401012 Free article.
460 results