Takashima H - Search Results

1

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Higuchi Y, et al. Among authors: takashima h. Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104. Brain. 2018. PMID: 29718187 Free PMC article.

2

A new type of hereditary motor and sensory neuropathy linked to chromosome 3.

Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M. Takashima H, et al. Ann Neurol. 1997 Jun;41(6):771-80. doi: 10.1002/ana.410410613. Ann Neurol. 1997. PMID: 9189038

3

A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.

Nakagawa M, Suehara M, Saito A, Takashima H, Umehara F, Saito M, Kanzato N, Matsuzaki T, Takenaga S, Sakoda S, Izumo S, Osame M. Nakagawa M, et al. Among authors: takashima h. Neurology. 1999 Apr 12;52(6):1271-5. doi: 10.1212/wnl.52.6.1271. Neurology. 1999. PMID: 10214757

4

Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1.

Takashima H, Nakagawa M, Suehara M, Saito M, Saito A, Kanzato N, Matsuzaki T, Hirata K, Terwilliger JD, Osame M. Takashima H, et al. Neuromuscul Disord. 1999 Oct;9(6-7):368-71. doi: 10.1016/s0960-8966(99)00021-8. Neuromuscul Disord. 1999. PMID: 10545038

5

Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15.

Shibasaki Y, Tanaka H, Iwabuchi K, Kawasaki S, Kondo H, Uekawa K, Ueda M, Kamiya T, Katayama Y, Nakamura A, Takashima H, Nakagawa M, Masuda M, Utsumi H, Nakamuro T, Tada K, Kurohara K, Inoue K, Koike F, Sakai T, Tsuji S, Kobayashi H. Shibasaki Y, et al. Among authors: takashima h. Ann Neurol. 2000 Jul;48(1):108-12. Ann Neurol. 2000. PMID: 10894224

6

Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma.

Kiwaki T, Umehara F, Takashima H, Nakagawa M, Kamimura K, Kashio N, Sakamoto Y, Unoki K, Nobuhara Y, Michizono K, Watanabe O, Arimura H, Osame M. Kiwaki T, et al. Among authors: takashima h. Neurology. 2000 Aug 8;55(3):392-7. doi: 10.1212/wnl.55.3.392. Neurology. 2000. PMID: 10932274

7

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).

Matsuyama W, Nakagawa M, Moritoyo T, Takashima H, Umehara F, Hirata K, Suehara M, Osame M. Matsuyama W, et al. Among authors: takashima h. J Hum Genet. 2001;46(6):307-13. doi: 10.1007/s100380170064. J Hum Genet. 2001. PMID: 11393532

8

Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.

Matsuyama W, Nakagawa M, Takashima H, Osame M. Matsuyama W, et al. Among authors: takashima h. Acta Neuropathol. 2002 May;103(5):501-8. doi: 10.1007/s00401-001-0497-1. Epub 2002 Jan 31. Acta Neuropathol. 2002. PMID: 11935267

9

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

10

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Among authors: takashima h. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280

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