Takashima H - Search Results

1

Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.

Higuchi Y, Ando M, Kojima F, Yuan J, Hashiguchi A, Yoshimura A, Hiramatsu Y, Nozuma S, Fukumura S, Yahikozawa H, Abe E, Toyoshima I, Sugawara M, Okamoto Y, Matsuura E, Takashima H. Higuchi Y, et al. Among authors: takashima h. J Neurol. 2024 Jan;271(1):419-430. doi: 10.1007/s00415-023-11998-3. Epub 2023 Sep 26. J Neurol. 2024. PMID: 37750949 Free PMC article.

2

A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation.

Kinoshita T, Imaizumi T, Miura Y, Fujimoto H, Ayabe M, Shoji H, Okamoto Y, Takashima H, Osame M, Nakagawa M. Kinoshita T, et al. Among authors: takashima h. Neurosci Lett. 2003 Oct 30;350(3):169-72. doi: 10.1016/s0304-3940(03)00900-5. Neurosci Lett. 2003. PMID: 14550921

3

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.

Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K. Hirano R, et al. Among authors: takashima h. Neurology. 2004 Aug 10;63(3):577-80. doi: 10.1212/01.wnl.0000133211.40288.9a. Neurology. 2004. PMID: 15304601

4

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

5

Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).

Arata H, Takashima H, Hirano R, Tomimitsu H, Machigashira K, Izumi K, Kikuno M, Ng AR, Umehara F, Arisato T, Ohkubo R, Nakabeppu Y, Nakajo M, Osame M, Arimura K. Arata H, et al. Among authors: takashima h. Neurology. 2006 Jun 13;66(11):1672-8. doi: 10.1212/01.wnl.0000218211.85675.18. Neurology. 2006. PMID: 16769939 Clinical Trial.

6

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, Hashiguchi A, Hirano R, Ng AR, Nakagawa M, Izumo S, Osame M, Arimura K. Okamoto Y, et al. Among authors: takashima h. Neurogenetics. 2006 Jul;7(3):175-83. doi: 10.1007/s10048-006-0046-0. Epub 2006 Jun 15. Neurogenetics. 2006. PMID: 16779558

7

[Mitochondrial encephalomyopathy with elderly onset of psychiatric disorder].

Moriyama H, Ichiki M, Arime T, Hashiguchi A, Kanda N, Ikeda K, Takashima H, Higuchi I, Osame M, Arimura K. Moriyama H, et al. Among authors: takashima h. Nihon Naika Gakkai Zasshi. 2007 Nov 10;96(11):2536-8. doi: 10.2169/naika.96.2536. Nihon Naika Gakkai Zasshi. 2007. PMID: 18069310 Japanese. No abstract available.

8

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

9

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy.

Sakiyama Y, Okamoto Y, Higuchi I, Inamori Y, Sangatsuda Y, Michizono K, Watanabe O, Hatakeyama H, Goto Y, Arimura K, Takashima H. Sakiyama Y, et al. Among authors: takashima h. Acta Neuropathol. 2011 Jun;121(6):775-83. doi: 10.1007/s00401-011-0818-y. Epub 2011 Mar 22. Acta Neuropathol. 2011. PMID: 21424749 Free PMC article.

10

[Hereditary neuropathy: variety of disease-causing genes and progress of molecular genetic diagnosis].

Hashiguchi A, Takashima H. Hashiguchi A, et al. Among authors: takashima h. Brain Nerve. 2011 Jun;63(6):539-48. Brain Nerve. 2011. PMID: 21613657 Review. Japanese.

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