Okamoto Y - Search Results

1

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H. Zhao Z, et al. Among authors: okamoto y. Clin Neurol Neurosurg. 2013 Aug;115(8):1234-7. doi: 10.1016/j.clineuro.2012.11.010. Epub 2012 Dec 14. Clin Neurol Neurosurg. 2013. PMID: 23254335

2

Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.

Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H. Zhao Z, et al. Among authors: okamoto y. Neurology. 2012 May 22;78(21):1644-9. doi: 10.1212/WNL.0b013e3182574f8f. Epub 2012 May 9. Neurology. 2012. PMID: 22573628 Free PMC article.

3

A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia.

Okamoto Y, Higuchi I, Sakiyama Y, Tokunaga S, Watanabe O, Arimura K, Nakagawa M, Takashima H. Okamoto Y, et al. Ann Neurol. 2011 Sep;70(3):486-92. doi: 10.1002/ana.22498. Ann Neurol. 2011. PMID: 21905081

4

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: okamoto y. 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.

5

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. Neurogenetics. 2006 Jul;7(3):175-83. doi: 10.1007/s10048-006-0046-0. Epub 2006 Jun 15. Neurogenetics. 2006. PMID: 16779558

6

Clinical and Electron Microscopic Findings in Two Patients with Mitochondrial Myopathy Associated with Episodic Hyper-creatine Kinase-emia.

Nozuma S, Okamoto Y, Higuchi I, Yuan J, Hashiguchi A, Sakiyama Y, Yoshimura A, Higuchi Y, Takashima H. Nozuma S, et al. Among authors: okamoto y. Intern Med. 2015;54(24):3209-14. doi: 10.2169/internalmedicine.54.5444. Epub 2015 Dec 15. Intern Med. 2015. PMID: 26666615 Free article.

7

Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.

Yoshimura A, Yuan JH, Hashiguchi A, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Nakagawa M, Takashima H. Yoshimura A, et al. Among authors: okamoto y. J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):195-202. doi: 10.1136/jnnp-2018-318839. Epub 2018 Sep 26. J Neurol Neurosurg Psychiatry. 2019. PMID: 30257968 Free PMC article.

8

Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.

Yuan JH, Sakiyama Y, Hashiguchi A, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Takashima H. Yuan JH, et al. Among authors: okamoto y. Eur J Neurol. 2018 Dec;25(12):1454-1461. doi: 10.1111/ene.13750. Epub 2018 Aug 3. Eur J Neurol. 2018. PMID: 29998508

9

Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.

Hiramatsu Y, Okamoto Y, Yoshimura A, Yuan JH, Ando M, Higuchi Y, Hashiguchi A, Matsuura E, Nozaki F, Kumada T, Murayama K, Suzuki M, Yamamoto Y, Matsui N, Miyazaki Y, Yamaguchi M, Suzuki Y, Mitsui J, Ishiura H, Tanaka M, Morishita S, Nishino I, Tsuji S, Takashima H. Hiramatsu Y, et al. Among authors: okamoto y. J Neurol. 2022 Aug;269(8):4129-4140. doi: 10.1007/s00415-022-11026-w. Epub 2022 Mar 2. J Neurol. 2022. PMID: 35235001 Free PMC article.

10

Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.

Ando M, Higuchi Y, Yuan JH, Yoshimura A, Kitao R, Morimoto T, Taniguchi T, Takeuchi M, Takei J, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Okamoto Y, Mitsui J, Ishiura H, Tsuji S, Takashima H. Ando M, et al. Among authors: okamoto y. Ann Clin Transl Neurol. 2022 May;9(5):747-755. doi: 10.1002/acn3.51555. Epub 2022 Apr 28. Ann Clin Transl Neurol. 2022. PMID: 35482004 Free PMC article.

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