Takashima H - Search Results

1

Spinocerebellar ataxia with axonal neuropathy.

Walton C, Interthal H, Hirano R, Salih MA, Takashima H, Boerkoel CF. Walton C, et al. Among authors: takashima h. Adv Exp Med Biol. 2010;685:75-83. doi: 10.1007/978-1-4419-6448-9_7. Adv Exp Med Biol. 2010. PMID: 20687496 Review.

2

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR. Takashima H, et al. Nat Genet. 2002 Oct;32(2):267-72. doi: 10.1038/ng987. Epub 2002 Sep 16. Nat Genet. 2002. PMID: 12244316

3

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MA, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF. Hirano R, et al. Among authors: takashima h. EMBO J. 2007 Nov 14;26(22):4732-43. doi: 10.1038/sj.emboj.7601885. Epub 2007 Oct 18. EMBO J. 2007. PMID: 17948061 Free PMC article.

4

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.

Boerkoel CF, Takashima H, Lupski JR. Boerkoel CF, et al. Among authors: takashima h. Curr Neurol Neurosci Rep. 2002 Jan;2(1):70-7. doi: 10.1007/s11910-002-0056-8. Curr Neurol Neurosci Rep. 2002. PMID: 11898586 Review.

5

Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.

Hirano R, Takashima H, Okubo R, Okamoto Y, Maki Y, Ishida S, Suehara M, Hokezu Y, Arimura K. Hirano R, et al. Among authors: takashima h. J Hum Genet. 2009 Jul;54(7):377-81. doi: 10.1038/jhg.2009.44. Epub 2009 May 15. J Hum Genet. 2009. PMID: 19444286

6

Spinocerebellar ataxia 36 accompanied by cervical dystonia.

Nakazato Y, Mochizuki H, Ishii N, Ohkubo R, Hirano R, Takashima H, Shiomi K, Nakazato M. Nakazato Y, et al. Among authors: takashima h. J Neurol Sci. 2015 Oct 15;357(1-2):304-6. doi: 10.1016/j.jns.2015.07.012. Epub 2015 Jul 10. J Neurol Sci. 2015. PMID: 26189053 No abstract available.

7

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H, Boerkoel CF, Lupski JR. Takashima H, et al. Genet Med. 2001 Sep-Oct;3(5):335-42. doi: 10.1097/00125817-200109000-00002. Genet Med. 2001. PMID: 11545686 Free article.

8

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Boerkoel CF, et al. Among authors: takashima h. Am J Hum Genet. 2001 Feb;68(2):325-33. doi: 10.1086/318208. Epub 2000 Dec 15. Am J Hum Genet. 2001. PMID: 11133365 Free PMC article.

9

Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.

Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, Tsuruta K, Arisato T, Arata H, Nakagawa M, Osame M, Arimura K. Hirano R, et al. Among authors: takashima h. Neurogenetics. 2004 Dec;5(4):215-21. doi: 10.1007/s10048-004-0194-z. Epub 2004 Sep 29. Neurogenetics. 2004. PMID: 15455264

10

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.

Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR. Bolino A, et al. Among authors: takashima h. Neurogenetics. 2001 Mar;3(2):107-9. doi: 10.1007/s100480000101. Neurogenetics. 2001. PMID: 11354824

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