Shimojima K - Search Results

1

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.

Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H, Hirose S, Yamamoto T. Shimojima K, et al. J Hum Genet. 2012 Sep;57(9):580-6. doi: 10.1038/jhg.2012.71. Epub 2012 Jun 14. J Hum Genet. 2012. PMID: 22695888

2

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T. Shimojima K, et al. Eur J Med Genet. 2012 Jun;55(6-7):400-3. doi: 10.1016/j.ejmg.2012.02.013. Epub 2012 Mar 21. Eur J Med Genet. 2012. PMID: 22490426

3

Pelizaeus-Merzbacher disease as a chromosomal disorder.

Yamamoto T, Shimojima K. Yamamoto T, et al. Among authors: shimojima k. Congenit Anom (Kyoto). 2013 Mar;53(1):3-8. doi: 10.1111/cga.12005. Congenit Anom (Kyoto). 2013. PMID: 23480352 Review.

4

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.

Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T. Shimojima K, et al. J Hum Genet. 2011 Aug;56(8):561-5. doi: 10.1038/jhg.2011.58. Epub 2011 Jun 2. J Hum Genet. 2011. PMID: 21633362

5

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.

Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, Matsumoto N, Yamamoto T. Shimojima K, et al. Brain Dev. 2015 Mar;37(3):281-5. doi: 10.1016/j.braindev.2014.05.004. Epub 2014 Jun 26. Brain Dev. 2015. PMID: 24974158

6

A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.

Shimojima K, Okamoto N, Yamamoto T. Shimojima K, et al. Am J Med Genet A. 2016 Apr;170A(4):1076-9. doi: 10.1002/ajmg.a.37545. Epub 2016 Jan 6. Am J Med Genet A. 2016. PMID: 26739025

7

An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.

Shirai K, Higashi Y, Shimojima K, Yamamoto T. Shirai K, et al. Among authors: shimojima k. Am J Med Genet A. 2017 Apr;173(4):1124-1127. doi: 10.1002/ajmg.a.38134. Am J Med Genet A. 2017. PMID: 28328133

8

ACTA2 is not a major disease-causing gene for moyamoya disease.

Shimojima K, Yamamoto T. Shimojima K, et al. J Hum Genet. 2009 Nov;54(11):687-8. doi: 10.1038/jhg.2009.91. Epub 2009 Sep 11. J Hum Genet. 2009. PMID: 19745835 No abstract available.

9

A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.

Komoike Y, Shimojima K, Liang JS, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T. Komoike Y, et al. Among authors: shimojima k. J Hum Genet. 2010 Mar;55(3):155-62. doi: 10.1038/jhg.2010.1. Epub 2010 Jan 29. J Hum Genet. 2010. PMID: 20111057

10

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy.

Shimojima K, Imai K, Yamamoto T. Shimojima K, et al. Am J Med Genet A. 2010 Nov;152A(11):2820-6. doi: 10.1002/ajmg.a.33658. Am J Med Genet A. 2010. PMID: 20830801

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