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Year Number of Results
2014 1
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2017 4
2018 2
2019 1
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2022 8
2023 6
2024 2

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Page 1
Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.
Ando M, Higuchi Y, Yuan JH, Yoshimura A, Dozono M, Hobara T, Kojima F, Noguchi Y, Takeuchi M, Takei J, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Sone J, Takashima H. Ando M, et al. Among authors: hiramatsu y. J Neurol Neurosurg Psychiatry. 2023 Aug;94(8):622-630. doi: 10.1136/jnnp-2022-330769. Epub 2023 Mar 22. J Neurol Neurosurg Psychiatry. 2023. PMID: 36948577
Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
Ando M, Higuchi Y, Yuan J, Yoshimura A, Kojima F, Yamanishi Y, Aso Y, Izumi K, Imada M, Maki Y, Nakagawa H, Hobara T, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Takashima H. Ando M, et al. Among authors: hiramatsu y. Ann Clin Transl Neurol. 2024 Jan;11(1):96-104. doi: 10.1002/acn3.51936. Epub 2023 Nov 2. Ann Clin Transl Neurol. 2024. PMID: 37916889 Free PMC article.
Efficacy of l-Arginine treatment in patients with HTLV-1-associated neurological disease.
Nozuma S, Matsuura E, Tashiro Y, Nagata R, Ando M, Hiramatsu Y, Higuchi Y, Sakiyama Y, Hashiguchi A, Michizono K, Higashi K, Matsuzaki T, Kodama D, Tanaka M, Yamano Y, Moritoyo T, Kubota R, Takashima H. Nozuma S, et al. Among authors: hiramatsu y. Ann Clin Transl Neurol. 2023 Feb;10(2):237-245. doi: 10.1002/acn3.51715. Epub 2022 Dec 22. Ann Clin Transl Neurol. 2023. PMID: 36547017 Free PMC article. Clinical Trial.
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: hiramatsu 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.
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: hiramatsu 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
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: hiramatsu 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.
Anti-ganglionic acetylcholine receptor antibodies in functional neurological symptom disorder/conversion disorder.
Nagata R, Matsuura E, Nozuma S, Dozono M, Noguchi Y, Ando M, Hiramatsu Y, Kodama D, Tanaka M, Kubota R, Yamakuchi M, Higuchi Y, Sakiyama Y, Arata H, Higashi K, Hashiguchi T, Nakane S, Takashima H. Nagata R, et al. Among authors: hiramatsu y. Front Neurol. 2023 Feb 13;14:1137958. doi: 10.3389/fneur.2023.1137958. eCollection 2023. Front Neurol. 2023. PMID: 36860574 Free PMC article.
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. 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.
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: hiramatsu y. 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
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: hiramatsu y. Biomedicines. 2022 Jun 29;10(7):1546. doi: 10.3390/biomedicines10071546. Biomedicines. 2022. PMID: 35884855 Free PMC article.
21 results