Shimada S - Search Results

1

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

Shimada S, Hirano Y, Ito S, Oguni H, Nagata S, Shimojima K, Yamamoto T. Shimada S, et al. Hum Genome Var. 2014 Dec 4;1:14027. doi: 10.1038/hgv.2014.27. eCollection 2014. Hum Genome Var. 2014. PMID: 27081515 Free PMC article.

2

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.

Shimada S, Miya K, Oda N, Watanabe Y, Kumada T, Sugawara M, Shimojima K, Yamamoto T. Shimada S, et al. Am J Med Genet A. 2012 Jul;158A(7):1771-7. doi: 10.1002/ajmg.a.35431. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678813

3

A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.

Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T. Shimojima K, et al. Among authors: shimada s. J Neurol Sci. 2013 Jul 15;330(1-2):123-6. doi: 10.1016/j.jns.2013.04.017. Epub 2013 May 16. J Neurol Sci. 2013. PMID: 23684670

4

Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.

Sangu N, Shimosato T, Inoda H, Shimada S, Shimojima K, Ando T, Yamamoto T. Sangu N, et al. Among authors: shimada s. Congenit Anom (Kyoto). 2013 Dec;53(4):166-9. doi: 10.1111/cga.12013. Congenit Anom (Kyoto). 2013. PMID: 24712477

5

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N. Tsurusaki Y, et al. Among authors: shimada s. J Hum Genet. 2015 Oct;60(10):631-5. doi: 10.1038/jhg.2015.72. Epub 2015 Jun 25. J Hum Genet. 2015. PMID: 26108146

6

Clinical impacts of genomic copy number gains at Xq28.

Yamamoto T, Shimojima K, Shimada S, Yokochi K, Yoshitomi S, Yanagihara K, Imai K, Okamoto N. Yamamoto T, et al. Among authors: shimada s. Hum Genome Var. 2014 Jul 24;1:14001. doi: 10.1038/hgv.2014.1. eCollection 2014. Hum Genome Var. 2014. PMID: 27081496 Free PMC article. Review.

7

MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts.

Shimada S, Shimojima K, Masuda T, Nakayama Y, Kohji T, Tsukamoto H, Matsubasa T, Oka A, Yamamoto T. Shimada S, et al. Hum Genome Var. 2014 Oct 30;1:14019. doi: 10.1038/hgv.2014.19. eCollection 2014. Hum Genome Var. 2014. PMID: 27081509 Free PMC article.

8

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.

Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T. Hamatani M, et al. Among authors: shimada s. J Hum Genet. 2016 Oct;61(10):899-902. doi: 10.1038/jhg.2016.64. Epub 2016 Jun 2. J Hum Genet. 2016. PMID: 27251004 Free article.

9

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.

Shimada S, Oguni H, Otani Y, Nishikawa A, Ito S, Eto K, Nakazawa T, Yamamoto-Shimojima K, Takanashi JI, Nagata S, Yamamoto T. Shimada S, et al. Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29. Brain Dev. 2018. PMID: 29858110

10

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.

Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. Shimada S, et al. Am J Med Genet A. 2018 Dec;176(12):2803-2807. doi: 10.1002/ajmg.a.40500. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152144

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