Mimaki M - Search Results

1

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: mimaki m. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.

2

A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.

Mimaki M, Ikota A, Sato A, Komaki H, Akanuma J, Nonaka I, Goto Y. Mimaki M, et al. J Hum Genet. 2003;48(1):47-50. doi: 10.1007/s100380300005. J Hum Genet. 2003. PMID: 12560876

3

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

Mimaki M, Hatakeyama H, Ichiyama T, Isumi H, Furukawa S, Akasaka M, Kamei A, Komaki H, Nishino I, Nonaka I, Goto Y. Mimaki M, et al. Mitochondrion. 2009 Apr;9(2):115-22. doi: 10.1016/j.mito.2009.01.005. Epub 2009 Jan 21. Mitochondrion. 2009. PMID: 19460299

4

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y. Mimaki M, et al. Ann Neurol. 2010 Dec;68(6):845-54. doi: 10.1002/ana.22111. Ann Neurol. 2010. PMID: 21194154

5

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.

Ishiyama A, Muramatsu K, Uchino S, Sakai C, Matsushima Y, Makioka N, Ogata T, Suzuki E, Komaki H, Sasaki M, Mimaki M, Goto YI, Nishino I. Ishiyama A, et al. Among authors: mimaki m. Clin Genet. 2018 May;93(5):1103-1106. doi: 10.1111/cge.13215. Epub 2018 Feb 11. Clin Genet. 2018. PMID: 29344937

6

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.

Uchino S, Iida A, Sato A, Ishikawa K, Mimaki M, Nishino I, Goto YI. Uchino S, et al. Among authors: mimaki m. Hum Genome Var. 2019 Apr 19;6:19. doi: 10.1038/s41439-019-0050-1. eCollection 2019. Hum Genome Var. 2019. PMID: 31016024 Free PMC article.

7

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. Inoue M, et al. Among authors: mimaki m. Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2. Ann Neurol. 2019. PMID: 31155743

8

Chemical reversal of abnormalities in cells carrying mitochondrial DNA mutations.

Kobayashi H, Hatakeyama H, Nishimura H, Yokota M, Suzuki S, Tomabechi Y, Shirouzu M, Osada H, Mimaki M, Goto YI, Yoshida M. Kobayashi H, et al. Among authors: mimaki m. Nat Chem Biol. 2021 Mar;17(3):335-343. doi: 10.1038/s41589-020-00676-4. Epub 2020 Nov 9. Nat Chem Biol. 2021. PMID: 33168978

9

Estimation of the Number of Patients With Mitochondrial Diseases: A Descriptive Study Using a Nationwide Database in Japan.

Ibayashi K, Fujino Y, Mimaki M, Fujimoto K, Matsuda S, Goto YI. Ibayashi K, et al. Among authors: mimaki m. J Epidemiol. 2023 Feb 5;33(2):68-75. doi: 10.2188/jea.JE20200577. Epub 2021 Sep 17. J Epidemiol. 2023. PMID: 33907064 Free PMC article.

10

Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs.

Yamasoba T, Goto Y, Komaki H, Mimaki M, Sudo A, Suzuki M. Yamasoba T, et al. Among authors: mimaki m. Neurosci Lett. 2006 Feb 27;395(1):18-22. doi: 10.1016/j.neulet.2005.10.045. Epub 2005 Nov 9. Neurosci Lett. 2006. PMID: 16289317

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