Takiyama Y - Search Results

1

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

Breckpot J, Takiyama Y, Thienpont B, Van Vooren S, Vermeesch JR, Ortibus E, Devriendt K. Breckpot J, et al. Among authors: takiyama y. Eur J Hum Genet. 2008 Sep;16(9):1050-4. doi: 10.1038/ejhg.2008.58. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398442

2

Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Takiyama Y. Takiyama Y. Neuropathology. 2006 Aug;26(4):368-75. doi: 10.1111/j.1440-1789.2006.00664.x. Neuropathology. 2006. PMID: 16961075

3

Identification of a SACS gene missense mutation in ARSACS.

Ogawa T, Takiyama Y, Sakoe K, Mori K, Namekawa M, Shimazaki H, Nakano I, Nishizawa M. Ogawa T, et al. Among authors: takiyama y. Neurology. 2004 Jan 13;62(1):107-9. doi: 10.1212/01.wnl.0000099371.14478.73. Neurology. 2004. PMID: 14718708

4

Novel compound heterozygous mutations in sacsin-related ataxia.

Yamamoto Y, Hiraoka K, Araki M, Nagano S, Shimazaki H, Takiyama Y, Sakoda S. Yamamoto Y, et al. Among authors: takiyama y. J Neurol Sci. 2005 Dec 15;239(1):101-4. doi: 10.1016/j.jns.2005.08.005. Epub 2005 Sep 29. J Neurol Sci. 2005. PMID: 16198375

5

An unusual case of a spasticity-lacking phenotype with a novel SACS mutation.

Shimazaki H, Sakoe K, Niijima K, Nakano I, Takiyama Y. Shimazaki H, et al. Among authors: takiyama y. J Neurol Sci. 2007 Apr 15;255(1-2):87-9. doi: 10.1016/j.jns.2007.02.002. Epub 2007 Mar 8. J Neurol Sci. 2007. PMID: 17349660

6

Novel SACS mutation in a Belgian family with sacsin-related ataxia.

Ouyang Y, Segers K, Bouquiaux O, Wang FC, Janin N, Andris C, Shimazaki H, Sakoe K, Nakano I, Takiyama Y. Ouyang Y, et al. Among authors: takiyama y. J Neurol Sci. 2008 Jan 15;264(1-2):73-6. doi: 10.1016/j.jns.2007.07.022. Epub 2007 Aug 22. J Neurol Sci. 2008. PMID: 17716690

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 ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. Among authors: takiyama y. J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18. J Hum Genet. 2018. PMID: 29915212 Clinical Trial.

9

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, Sato R, Togashi N, Takashima H, Ishiura H, Tsuji S, Koh K, Takiyama Y, Haginoya K. Miyabayashi T, et al. Among authors: takiyama y. J Hum Genet. 2019 Feb;64(2):171-176. doi: 10.1038/s10038-018-0538-4. Epub 2018 Nov 22. J Hum Genet. 2019. PMID: 30467354

10

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

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