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Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H. Ando M, et al. Among authors: okamoto y. J Peripher Nerv Syst. 2017 Sep;22(3):191-199. doi: 10.1111/jns.12228. Epub 2017 Jul 30. J Peripher Nerv Syst. 2017. PMID: 28660751 Free PMC article.
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.
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Takei J, Takeuchi M, Hiramatsu Y, Shimizu F, Kubota M, Takeshima A, Ueda T, Koh K, Nagaoka U, Tokashiki T, Sawai S, Sakiyama Y, Hashiguchi A, Sato R, Kanda T, Okamoto Y, Takashima H. Ando M, et al. Among authors: okamoto y. Ann Clin Transl Neurol. 2022 Jul;9(7):902-911. doi: 10.1002/acn3.51603. Epub 2022 Jun 22. Ann Clin Transl Neurol. 2022. PMID: 35733399 Free PMC article.
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H. Tokunaga S, et al. Among authors: okamoto y. Neurogenetics. 2012 Nov;13(4):359-65. doi: 10.1007/s10048-012-0338-5. Epub 2012 Aug 1. Neurogenetics. 2012. PMID: 22847150
Clinical diversity caused by novel IGHMBP2 variants.
Yuan JH, Hashiguchi A, Yoshimura A, Yaguchi H, Tsuzaki K, Ikeda A, Wada-Isoe K, Ando M, Nakamura T, Higuchi Y, Hiramatsu Y, Okamoto Y, Takashima H. Yuan JH, et al. Among authors: okamoto y. J Hum Genet. 2017 Jun;62(6):599-604. doi: 10.1038/jhg.2017.15. Epub 2017 Mar 9. J Hum Genet. 2017. PMID: 28202949
The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.
Sawada J, Katayama T, Tokashiki T, Kikuchi S, Kano K, Takahashi K, Saito T, Adachi Y, Okamoto Y, Yoshimura A, Takashima H, Hasebe N. Sawada J, et al. Among authors: okamoto y. Intern Med. 2020 Jan 15;59(2):277-283. doi: 10.2169/internalmedicine.2905-19. Epub 2019 Sep 26. Intern Med. 2020. PMID: 31554751 Free PMC article.
3,838 results