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14 results

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Page 1
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K. Ebihara T, et al. Among authors: tajika m. Arch Dis Child Fetal Neonatal Ed. 2022 May;107(3):329-334. doi: 10.1136/archdischild-2021-321633. Epub 2021 Oct 7. Arch Dis Child Fetal Neonatal Ed. 2022. PMID: 34625524 Free PMC article.
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.
Sugiyama Y, Shimura M, Ogawa-Tominaga M, Ebihara T, Kinouchi Y, Isozaki K, Matsuhashi T, Tajika M, Fushimi T, Ichimoto K, Matsunaga A, Ishida T, Mizutani K, Tsuruoka T, Murayama K. Sugiyama Y, et al. Among authors: tajika m. Mol Genet Metab Rep. 2020 Jul 8;24:100622. doi: 10.1016/j.ymgmr.2020.100622. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32670798 Free PMC article.
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Shimura M, et al. Among authors: tajika m. Mitochondrion. 2022 Mar;63:1-8. doi: 10.1016/j.mito.2021.12.005. Epub 2021 Dec 18. Mitochondrion. 2022. PMID: 34933128 Free article.
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Ebihara T, et al. Among authors: tajika m. Mol Genet Metab Rep. 2022 Aug 24;33:100912. doi: 10.1016/j.ymgmr.2022.100912. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36061954 Free PMC article.
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Imai-Okazaki A, et al. Among authors: tajika m. Int J Cardiol. 2021 Oct 15;341:48-55. doi: 10.1016/j.ijcard.2021.06.042. Epub 2021 Jul 21. Int J Cardiol. 2021. PMID: 34298071 Free article.
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.
Ikeda T, Osaka H, Shimbo H, Tajika M, Yamazaki M, Ueda A, Murayama K, Yamagata T. Ikeda T, et al. Among authors: tajika m. Hum Genome Var. 2018 Sep 4;5:25. doi: 10.1038/s41439-018-0026-6. eCollection 2018. Hum Genome Var. 2018. PMID: 30210801 Free PMC article.
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: tajika 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.
Effects of 5-aminolevulinic acid and sodium ferrous citrate on fibroblasts from individuals with mitochondrial diseases.
Shimura M, Nozawa N, Ogawa-Tominaga M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Kishita Y, Ishii T, Takahashi K, Tanaka T, Nakajima M, Okazaki Y, Ohtake A, Murayama K. Shimura M, et al. Among authors: tajika m. Sci Rep. 2019 Jul 22;9(1):10549. doi: 10.1038/s41598-019-46772-x. Sci Rep. 2019. PMID: 31332208 Free PMC article.
14 results