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Page 1
Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
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: taniguchi t.
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.
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An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M, Higuchi Y, Okamoto Y, Yuan J, Yoshimura A, Takei J, Taniguchi T, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Matsuura E, Nakagawa H, Sonoda K, Yamashita T, Tamura A, Terasawa H, Mitsui J, Ishiura H, Tsuji S, Takashima H.
Ando M, et al. Among authors: taniguchi t.
J Hum Genet. 2022 Jul;67(7):399-403. doi: 10.1038/s10038-022-01019-y. Epub 2022 Jan 28.
J Hum Genet. 2022.
PMID: 35091664
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Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Kojima F, Noguchi Y, Hobara 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: taniguchi t.
Biomedicines. 2022 Jun 29;10(7):1546. doi: 10.3390/biomedicines10071546.
Biomedicines. 2022.
PMID: 35884855
Free PMC article.
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Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Hashiguchi A, Shiga K, Hayashida A, Hatano T, Ishiura H, Mitsui J, Hattori N, Mizuno T, Nakagawa M, Tsuji S, Takashima H.
Taniguchi T, et al.
Clin Genet. 2021 Mar;99(3):359-375. doi: 10.1111/cge.13881. Epub 2020 Nov 27.
Clin Genet. 2021.
PMID: 33179255
Free PMC article.
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Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.
Taniguchi T, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Hashiguchi A, Matsuda N, Yamamoto M, Dohi E, Takahashi M, Yoshino M, Nomura T, Matsushima M, Yabe I, Sanpei Y, Ishiura H, Mitsui J, Nakagawa M, Tsuji S, Takashima H.
Taniguchi T, et al.
J Hum Genet. 2022 Jun;67(6):353-362. doi: 10.1038/s10038-021-01005-w. Epub 2022 Jan 14.
J Hum Genet. 2022.
PMID: 35027655
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[A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report].
Taniguchi T, Hokezu Y, Okada T, Ishibashi M, Hashiguchi A, Matsuura E, Takashima H.
Taniguchi T, et al.
Rinsho Shinkeigaku. 2017 Nov 25;57(11):685-690. doi: 10.5692/clinicalneurol.cn-000996. Epub 2017 Oct 26.
Rinsho Shinkeigaku. 2017.
PMID: 29070749
Japanese.
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