Takiyama Y - Search Results

1

A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis.

Wang Y, Koh K, Ichinose Y, Yasumura M, Ohtsuka T, Takiyama Y. Wang Y, et al. Among authors: takiyama y. Clin Genet. 2016 Dec;90(6):556-557. doi: 10.1111/cge.12851. Epub 2016 Sep 16. Clin Genet. 2016. PMID: 27633718 No abstract available.

2

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.

Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H. Ishikawa K, et al. Among authors: takiyama y. Am J Hum Genet. 1997 Aug;61(2):336-46. doi: 10.1086/514867. Am J Hum Genet. 1997. PMID: 9311738 Free PMC article.

3

Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan.

Li M, Ishikawa K, Toru S, Tomimitsu H, Takashima M, Goto J, Takiyama Y, Sasaki H, Imoto I, Inazawa J, Toda T, Kanazawa I, Mizusawa H. Li M, et al. Among authors: takiyama y. J Hum Genet. 2003;48(3):111-8. doi: 10.1007/s100380300017. J Hum Genet. 2003. PMID: 12624721

4

[A patient with cerebellar ataxia, hypogonadotropic hypogonadism and vitelliform macular dystrophy: Boucher-Neuhäuser syndrome].

Kobayashi F, Kurihara Y, Nagasaka K, Iida H, Shindo K, Takiyama Y. Kobayashi F, et al. Among authors: takiyama y. Rinsho Shinkeigaku. 2010 Feb;50(2):98-102. doi: 10.5692/clinicalneurol.50.98. Rinsho Shinkeigaku. 2010. PMID: 20196491 Japanese.

5

[Cheyne-Stokes respiration appeared in an early stage of the disease in a patient with Creutzfeldt-Jakob disease].

Koh K, Nagasaka T, Kobayashi F, Yamashiro N, Shindo K, Takiyama Y. Koh K, et al. Among authors: takiyama y. Rinsho Shinkeigaku. 2013;53(8):642-5. doi: 10.5692/clinicalneurol.53.642. Rinsho Shinkeigaku. 2013. PMID: 23965858 Japanese.

6

Characteristic MRI findings in beta-propeller protein-associated neurodegeneration (BPAN).

Ichinose Y, Miwa M, Onohara A, Obi K, Shindo K, Saitsu H, Matsumoto N, Takiyama Y. Ichinose Y, et al. Among authors: takiyama y. Neurol Clin Pract. 2014 Apr;4(2):175-177. doi: 10.1212/01.CPJ.0000437694.17888.9b. Neurol Clin Pract. 2014. PMID: 24790802 Free PMC article.

7

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.

Wang Y, Koh K, Miwa M, Yamashiro N, Shindo K, Takiyama Y. Wang Y, et al. Among authors: takiyama y. J Hum Genet. 2014 Oct;59(10):569-73. doi: 10.1038/jhg.2014.74. Epub 2014 Aug 21. J Hum Genet. 2014. PMID: 25142508

8

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

Koh K, Kobayashi F, Miwa M, Shindo K, Isozaki E, Ishiura H, Tsuji S, Takiyama Y. Koh K, et al. Among authors: takiyama y. J Hum Genet. 2015 Apr;60(4):217-20. doi: 10.1038/jhg.2015.3. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631098

9

[A case of Creutzfeldt-Jakob disease with a double mutation (V180I/M232R) in the PRNP gene].

Koh K, Takaki R, Miwa M, Nagasaka T, Shindo K, Takiyama Y. Koh K, et al. Among authors: takiyama y. Rinsho Shinkeigaku. 2015;55(6):424-7. doi: 10.5692/clinicalneurol.cn-000646. Rinsho Shinkeigaku. 2015. PMID: 26103817 Japanese.

10

No relation between sympathetic outflow to muscles and respiratory function in amyotrophic lateral sclerosis.

Shindo K, Tsuchiya M, Ichinose Y, Onohara A, Fukumoto M, Koh K, Takaki R, Yamashiro N, Kobayashi F, Nagasaka T, Takiyama Y. Shindo K, et al. Among authors: takiyama y. J Neurol Sci. 2015 Nov 15;358(1-2):66-71. doi: 10.1016/j.jns.2015.08.017. Epub 2015 Aug 12. J Neurol Sci. 2015. PMID: 26285663

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