Takashima H - Search Results

1

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

2

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, Lama G, Loirat C, McLeod DR, Milford DV, Petty EM, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Spranger J, Stein A, Thiele H, Tizard J, Weksberg R, Lupski JR, Stockton DW. Boerkoel CF, et al. Among authors: takashima h. Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799392

3

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.

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

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schröder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR. Takashima H, et al. Ann Neurol. 2002 Jun;51(6):709-15. doi: 10.1002/ana.10213. Ann Neurol. 2002. PMID: 12112076

6

CMT4A: identification of a Hispanic GDAP1 founder mutation.

Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR. Boerkoel CF, et al. Among authors: takashima h. Ann Neurol. 2003 Mar;53(3):400-5. doi: 10.1002/ana.10505. Ann Neurol. 2003. PMID: 12601710

7

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.

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

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.

Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR. Boerkoel CF, et al. Among authors: takashima h. Neurogenetics. 2001 Jul;3(3):153-7. doi: 10.1007/s100480100107. Neurogenetics. 2001. PMID: 11523566

10

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.

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