Naiki M - Search Results

1

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N. Naiki M, et al. Am J Med Genet A. 2014 May;164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664533

2

MBTPS2 mutation causes BRESEK/BRESHECK syndrome.

Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N. Naiki M, et al. Am J Med Genet A. 2012 Jan;158A(1):97-102. doi: 10.1002/ajmg.a.34373. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105905

3

Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.

Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N. Fukushi D, et al. Among authors: naiki m. Am J Med Genet A. 2014 Apr;164A(4):924-33. doi: 10.1002/ajmg.a.36373. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478188

4

Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.

Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Fukushi D, Wakamatsu N, Taniguchi A, Yamaoka N, Kaneko K, Fujimori S. Yamada Y, et al. Among authors: naiki m. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1272-5. doi: 10.1080/15257770.2011.597369. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132986

5

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.

Yamada K, Naiki M, Hoshino S, Kitaura Y, Kondo Y, Nomura N, Kimura R, Fukushi D, Yamada Y, Shimozawa N, Yamaguchi S, Shimomura Y, Miura K, Wakamatsu N. Yamada K, et al. Among authors: naiki m. Mol Genet Metab Rep. 2014 Oct 16;1:455-460. doi: 10.1016/j.ymgmr.2014.10.003. eCollection 2014. Mol Genet Metab Rep. 2014. PMID: 27896122 Free PMC article.

6

Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.

Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N. Yamada Y, et al. Among authors: naiki m. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):291-4. doi: 10.1080/15257771003738691. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544509

7

Effect of corticosteroids in a twin child with idiopathic localization-related epilepsy.

Sofue A, Naiki M, Yokotsuka T, Miyauchi M, Itomi S, Fukasawa T, Natsume J. Sofue A, et al. Among authors: naiki m. Brain Dev. 2008 Mar;30(3):211-4. doi: 10.1016/j.braindev.2007.08.001. Epub 2007 Sep 6. Brain Dev. 2008. PMID: 17825515

8

Transient splenial lesions in children with "benign convulsions with gastroenteritis".

Natsume J, Naiki M, Yokotsuka T, Sofue A, Ikuta T, Kondo Y, Negoro T. Natsume J, et al. Among authors: naiki m. Brain Dev. 2007 Sep;29(8):519-21. doi: 10.1016/j.braindev.2006.12.010. Epub 2007 Feb 20. Brain Dev. 2007. PMID: 17307324

9

Hippocampal volumes and diffusion-weighted image findings in children with prolonged febrile seizures.

Natsume J, Bernasconi N, Miyauchi M, Naiki M, Yokotsuka T, Sofue A, Bernasconi A. Natsume J, et al. Among authors: naiki m. Acta Neurol Scand. 2007 Apr;115(4 Suppl):25-8. doi: 10.1111/j.1600-0404.2007.00806.x. Acta Neurol Scand. 2007. PMID: 17362273

10

Hippocampal volumes and diffusion-weighted image findings in children with prolonged febrile seizures.

Natsume J, Bernasconi N, Miyauchi M, Naiki M, Yokotsuka T, Sofue A, Bernasconi A. Natsume J, et al. Among authors: naiki m. Acta Neurol Scand Suppl. 2007;186:25-8. Acta Neurol Scand Suppl. 2007. PMID: 17784534

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