Ikeda SI - Search Results

1

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Ohata T, Yoshida K, Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, Okano T, Takada F, Ishikawa K, Mizusawa H, Yoshiura KI, Fukushima Y, Ikeda SI, Matsumoto N. Ohata T, et al. Among authors: ikeda si. J Hum Genet. 2006;51(5):461-466. doi: 10.1007/s10038-006-0385-6. Epub 2006 Apr 14. J Hum Genet. 2006. PMID: 16614795

2

Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.

Shimizu Y, Yoshida K, Okano T, Ohara S, Hashimoto T, Fukushima Y, Ikeda SI. Shimizu Y, et al. Among authors: ikeda si. J Hum Genet. 2004;49(11):610-616. doi: 10.1007/s10038-004-0196-6. Epub 2004 Oct 8. J Hum Genet. 2004. PMID: 15480876

3

A Japanese case of SCA14 with the Gly128Asp mutation.

Morita H, Yoshida K, Suzuki K, Ikeda SI. Morita H, et al. Among authors: ikeda si. J Hum Genet. 2006;51(12):1118-1121. doi: 10.1007/s10038-006-0063-8. Epub 2006 Sep 22. J Hum Genet. 2006. PMID: 17024314

4

Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan.

Yoshida K, Shimizu Y, Morita H, Okano T, Sakai H, Ohata T, Matsumoto N, Nakamura K, Tazawa K, Ohara S, Tabata K, Inoue A, Sato S, Shimojima Y, Hattori T, Ushiyama M, Ikeda S. Yoshida K, et al. Cerebellum. 2009 Mar;8(1):46-51. doi: 10.1007/s12311-008-0062-8. Cerebellum. 2009. PMID: 18855094

5

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.

Sakai H, Yoshida K, Shimizu Y, Morita H, Ikeda S, Matsumoto N. Sakai H, et al. Neurogenetics. 2010 Oct;11(4):409-15. doi: 10.1007/s10048-010-0245-6. Epub 2010 Apr 28. Neurogenetics. 2010. PMID: 20424877 Free PMC article.

6

Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan.

Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda SI, Fukushima Y. Yoshida K, et al. Among authors: ikeda si. J Hum Genet. 2007;52(8):675-679. doi: 10.1007/s10038-007-0170-1. Epub 2007 Jul 5. J Hum Genet. 2007. PMID: 17611709

7

Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia.

Yoshida K, Okano T, Hoshi K, Yahikozawa H, Suzuki K, Banno H, Tamura T, Sobue G, Ikeda S. Yoshida K, et al. Am J Med Genet A. 2007 Jul 1;143A(13):1494-501. doi: 10.1002/ajmg.a.31795. Am J Med Genet A. 2007. PMID: 17551929

8

A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).

Nakamura K, Yoshida K, Makishita H, Kitamura E, Hashimoto S, Ikeda S. Nakamura K, et al. J Hum Genet. 2009 Dec;54(12):746-8. doi: 10.1038/jhg.2009.104. Epub 2009 Nov 6. J Hum Genet. 2009. PMID: 19893583

9

Cerebral hemorrhage in Fabry's disease.

Nakamura K, Sekijima Y, Nakamura K, Hattori K, Nagamatsu K, Shimizu Y, Yasude T, Ushiyama M, Endo F, Fukushima Y, Ikeda S. Nakamura K, et al. J Hum Genet. 2010 Apr;55(4):259-61. doi: 10.1038/jhg.2010.18. Epub 2010 Mar 19. J Hum Genet. 2010. PMID: 20300124

10

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N. Doi H, et al. Am J Hum Genet. 2011 Aug 12;89(2):320-7. doi: 10.1016/j.ajhg.2011.07.012. Am J Hum Genet. 2011. PMID: 21835308 Free PMC article.

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