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Year Number of Results
2002 1
2006 3
2007 2
2011 1
2012 7
2013 5
2014 5
2015 6
2016 9
2017 8
2018 12
2019 7
2020 5
2021 6
2022 15
2023 10
2024 4

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87 results

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Page 1
Clinicopathological features of adult-onset neuronal intranuclear inclusion disease.
Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato T, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, Sobue G. Sone J, et al. Among authors: hashiguchi a. Brain. 2016 Dec;139(Pt 12):3170-3186. doi: 10.1093/brain/aww249. Epub 2016 Oct 25. Brain. 2016. PMID: 27797808 Free PMC article.
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Sone J, et al. Among authors: hashiguchi a. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H. Yuan JH, et al. Among authors: hashiguchi a. J Peripher Nerv Syst. 2023 Dec;28(4):597-607. doi: 10.1111/jns.12590. Epub 2023 Aug 18. J Peripher Nerv Syst. 2023. PMID: 37555797
A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
Shirakawa S, Murakami T, Hashiguchi A, Takashima H, Hasegawa H, Ichida K, Sunada Y. Shirakawa S, et al. Among authors: hashiguchi a. Intern Med. 2022 Jun 1;61(11):1749-1751. doi: 10.2169/internalmedicine.8029-21. Epub 2021 Nov 20. Intern Med. 2022. PMID: 34803094 Free PMC article.
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: hashiguchi a. 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.
[Paraneoplastic myositis].
Hashiguchi A, Higuchi I. Hashiguchi A, et al. Nihon Rinsho. 2015 Sep;73 Suppl 7:788-92. Nihon Rinsho. 2015. PMID: 26480795 Japanese. No abstract available.
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: hashiguchi a. 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 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: hashiguchi a. 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 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: hashiguchi a. 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.
87 results