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Items: 33

1.

The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan.

Tanaka M, Natsume J, Hamano SI, Iyoda K, Kanemura H, Kubota M, Mimaki M, Niijima SI, Tanabe T, Yoshinaga H, Kojimahara N, Komaki H, Sugai K, Fukuda T, Maegaki Y, Sugie H.

Brain Dev. 2019 Oct 8. pii: S0387-7604(19)30342-0. doi: 10.1016/j.braindev.2019.08.009. [Epub ahead of print]

PMID:
31604594
2.

Azithromycin, a 15-membered macrolide antibiotic, inhibits influenza A(H1N1)pdm09 virus infection by interfering with virus internalization process.

Tran DH, Sugamata R, Hirose T, Suzuki S, Noguchi Y, Sugawara A, Ito F, Yamamoto T, Kawachi S, Akagawa KS, Ōmura S, Sunazuka T, Ito N, Mimaki M, Suzuki K.

J Antibiot (Tokyo). 2019 Oct;72(10):759-768. doi: 10.1038/s41429-019-0204-x. Epub 2019 Jul 12.

PMID:
31300721
3.

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.

Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2.

PMID:
31155743
4.

Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?

Nakagama Y, Hamanaka K, Mimaki M, Shintaku H, Miyatake S, Matsumoto N, Hirohata K, Inuzuka R, Oka A.

Neurol Genet. 2019 Mar 25;5(2):e319. doi: 10.1212/NXG.0000000000000319. eCollection 2019 Apr. No abstract available.

5.

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.

Hum Genome Var. 2019 Apr 19;6:19. doi: 10.1038/s41439-019-0050-1. eCollection 2019.

6.

Rapid Detection of Candida auris Based on Loop-Mediated Isothermal Amplification (LAMP).

Yamamoto M, Alshahni MM, Tamura T, Satoh K, Iguchi S, Kikuchi K, Mimaki M, Makimura K.

J Clin Microbiol. 2018 Aug 27;56(9). pii: e00591-18. doi: 10.1128/JCM.00591-18. Print 2018 Sep. No abstract available.

7.

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.

Clin Genet. 2018 May;93(5):1103-1106. doi: 10.1111/cge.13215. Epub 2018 Feb 11.

PMID:
29344937
8.

Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy.

Kuroda Y, Mizuno Y, Mimaki M, Oka A, Sato Y, Ogawa S, Kurosawa K.

Clin Dysmorphol. 2017 Oct;26(4):224-227. doi: 10.1097/MCD.0000000000000185. No abstract available.

PMID:
28557812
9.

Brain edema with clasmatodendrosis complicating ataxia telangiectasia.

Shimoda K, Mimaki M, Fujino S, Takeuchi M, Hino R, Uozaki H, Hayashi M, Oka A, Mizuguchi M.

Brain Dev. 2017 Aug;39(7):629-632. doi: 10.1016/j.braindev.2017.02.007. Epub 2017 Mar 25.

PMID:
28351596
10.

Partial monosomy of 10p and duplication of another chromosome in two patients.

Ohta S, Isojima T, Mizuno Y, Kato M, Mimaki M, Seki M, Sato Y, Ogawa S, Takita J, Kitanaka S, Oka A.

Pediatr Int. 2017 Jan;59(1):99-102. doi: 10.1111/ped.13181.

PMID:
28102624
11.

New guidelines for management of febrile seizures in Japan.

Natsume J, Hamano SI, Iyoda K, Kanemura H, Kubota M, Mimaki M, Niijima S, Tanabe T, Yoshinaga H, Kojimahara N, Komaki H, Sugai K, Fukuda T, Maegaki Y, Sugie H.

Brain Dev. 2017 Jan;39(1):2-9. doi: 10.1016/j.braindev.2016.06.003. Epub 2016 Sep 6. Review.

PMID:
27613077
12.

Cyclic Vomiting Syndrome in Infants and Children: A Clinical Follow-Up Study.

Hikita T, Kodama H, Ogita K, Kaneko S, Nakamoto N, Mimaki M.

Pediatr Neurol. 2016 Apr;57:29-33. doi: 10.1016/j.pediatrneurol.2016.01.001. Epub 2016 Jan 7.

PMID:
26861170
13.

Low serum biotin in Japanese children fed with hydrolysate formula.

Sato Y, Wakabayashi K, Ogawa E, Kodama H, Mimaki M.

Pediatr Int. 2016 Sep;58(9):867-71. doi: 10.1111/ped.12937. Epub 2016 Jun 15.

PMID:
26824516
14.

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N.

Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13.

15.

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.

Formosa LE, Mimaki M, Frazier AE, McKenzie M, Stait TL, Thorburn DR, Stroud DA, Ryan MT.

Hum Mol Genet. 2015 May 15;24(10):2952-65. doi: 10.1093/hmg/ddv058. Epub 2015 Feb 12.

PMID:
25678554
16.

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.

Mimaki M, Shiihara T, Watanabe M, Hirakata K, Sakazume S, Ishiguro A, Shimojima K, Yamamoto T, Oka A, Mizuguchi M.

Brain Dev. 2015 Aug;37(7):714-8. doi: 10.1016/j.braindev.2014.10.009. Epub 2014 Nov 8.

PMID:
25454392
17.

Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.

Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR.

Hum Mutat. 2012 Feb;33(2):411-8. doi: 10.1002/humu.21654. Epub 2011 Dec 22.

PMID:
22072591
18.

Understanding mitochondrial complex I assembly in health and disease.

Mimaki M, Wang X, McKenzie M, Thorburn DR, Ryan MT.

Biochim Biophys Acta. 2012 Jun;1817(6):851-62. doi: 10.1016/j.bbabio.2011.08.010. Epub 2011 Sep 2. Review.

19.

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.

Ann Neurol. 2010 Dec;68(6):845-54. doi: 10.1002/ana.22111.

PMID:
21194154
20.

Interstitial deletion of 13q14.13-q32.3 presenting with Arima syndrome and bilateral retinoblastoma.

Takahashi K, Oka A, Mizuguchi M, Saitoh M, Takita J, Sato A, Mimaki M, Kato M, Ogawa S, Igarashi T.

Brain Dev. 2011 Apr;33(4):353-6. doi: 10.1016/j.braindev.2010.06.014. Epub 2010 Aug 21.

PMID:
20728296
21.

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.

Tumurkhuu M, Saitoh M, Sato A, Takahashi K, Mimaki M, Takita J, Takeshita K, Hama T, Oka A, Mizuguchi M.

Pediatr Int. 2010 Aug;52(4):557-62. doi: 10.1111/j.1442-200X.2009.03020.x.

PMID:
20030748
22.

Hepatoblastoma in a patient with sotos syndrome.

Kato M, Takita J, Takahashi K, Mimaki M, Chen Y, Koh K, Ida K, Oka A, Mizuguchi M, Ogawa S, Igarashi T.

J Pediatr. 2009 Dec;155(6):937-9. doi: 10.1016/j.jpeds.2009.06.039.

PMID:
19914434
23.

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.

Mitochondrion. 2009 Apr;9(2):115-22. doi: 10.1016/j.mito.2009.01.005. Epub 2009 Jan 21.

PMID:
19460299
24.

Kernicterus in preterm infants.

Okumura A, Kidokoro H, Shoji H, Nakazawa T, Mimaki M, Fujii K, Oba H, Shimizu T.

Pediatrics. 2009 Jun;123(6):e1052-8. doi: 10.1542/peds.2008-2791. Epub 2009 May 11.

PMID:
19433515
25.

Cortical gray matter lesions in acute encephalopathy with febrile convulsive status epilepticus.

Sato A, Mizuguchi M, Mimaki M, Takahashi K, Jimi H, Oka A, Igarashi T.

Brain Dev. 2009 Sep;31(8):622-4. doi: 10.1016/j.braindev.2008.08.015. Epub 2008 Oct 10.

PMID:
18848752
26.

Developmental glaucoma with chromosomal abnormalities of 9p deletion and 13q duplication.

Sakata R, Usui T, Mimaki M, Araie M.

Arch Ophthalmol. 2008 Mar;126(3):431-2. doi: 10.1001/archopht.126.3.431. No abstract available.

PMID:
18332331
27.

A case of primary erythermalgia, wintry hypothermia and encephalopathy.

Takahashi K, Saitoh M, Hoshino H, Mimaki M, Yokoyama Y, Takamizawa M, Mizuguchi M, Lin ZM, Yang Y, Igarashi T.

Neuropediatrics. 2007 Jun;38(3):157-9.

PMID:
17985268
28.

[High-dose phenobarbital therapy is effective for the control of intractable tonic seizure with apnea in a case of multiple anomalies syndrome].

Hayashi T, Kubota M, Mimaki M, Tomita S, Horio K.

No To Hattatsu. 2006 Sep;38(5):359-62. Japanese.

PMID:
16986737
29.

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

Yamasoba T, Goto Y, Komaki H, Mimaki M, Sudo A, Suzuki M.

Neurosci Lett. 2006 Feb 27;395(1):18-22. Epub 2005 Nov 9.

PMID:
16289317
30.

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kobayashi Y, Hoshino K, Nomura Y, Mimaki M, Ohya K, Matsushima M, Nitta H, Tanaka K, Segawa M, Ohki T, Ezoe T, Kumagai T, Onuma A, Kuroda T, Yoneda M, Yamanaka T, Saeki M, Segawa M, Saji T, Nagaya M, Wakamatsu N.

J Med Genet. 2004 May;41(5):387-93. No abstract available.

31.

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.

J Hum Genet. 2003;48(1):47-50.

PMID:
12560876
32.

[Neuropsychological and neuroradiological evaluation of a child with frontal and temporal lobe dysfunction following acute encephalopathy].

Mimaki M, Uno A, Fukumizu M, Haruhara N.

No To Hattatsu. 2002 May;34(3):268-73. Japanese.

PMID:
12030018
33.

[Non-intravenous high-dose phenobarbital therapy for status epilepticus refractory to continuous infusion of midazolam or pentobarbital: report of three cases].

Sudoh A, Sugai K, Miyamoto T, Mimaki M, Fukumizu M, Hanaoka S, Sasaki M.

No To Hattatsu. 2002 Jan;34(1):23-9. Japanese.

PMID:
11808203

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