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5,045 results

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Page 1
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: ueda 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.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Higuchi Y, et al. Among authors: ueda t. Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104. Brain. 2018. PMID: 29718187 Free PMC article.
Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.
Endo H, Uenaka T, Satake W, Suzuki Y, Tachibana H, Chihara N, Ueda T, Sekiguchi K, Mariko TI, Kowa H, Kanda F, Toda T. Endo H, et al. Among authors: ueda t. Neurol Clin Neurosci. 2017 Jul;5(4):131-133. doi: 10.1111/ncn3.12132. Epub 2017 Jun 29. Neurol Clin Neurosci. 2017. PMID: 28932395 Free PMC article.
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis.
Nishida Y, Nakamura M, Urata Y, Kasamo K, Hiwatashi H, Yokoyama I, Mizobuchi M, Sakurai K, Osaki Y, Morita Y, Watanabe M, Yoshida K, Yamane K, Miyakoshi N, Okiyama R, Ueda T, Wakasugi N, Saitoh Y, Sakamoto T, Takahashi Y, Shibano K, Tokuoka H, Hara A, Monma K, Ogata K, Kakuda K, Mochizuki H, Arai T, Araki M, Fujii T, Tsukita K, Sakamaki-Tsukita H, Sano A. Nishida Y, et al. Among authors: ueda t. Neurol Genet. 2019 May 1;5(3):e332. doi: 10.1212/NXG.0000000000000332. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31192303 Free PMC article.
[Successful treatment of Guillain-Barré syndrome-like acute inflammatory demyelinating polyneuropathy caused by pembrolizumab with a combination of corticosteroid and immunoglobulins: a case report].
Hashimoto R, Ueda T, Tsuji Y, Otsuka Y, Sekiguchi K, Matsumoto R. Hashimoto R, et al. Among authors: ueda t. Rinsho Shinkeigaku. 2020 Nov 27;60(11):773-777. doi: 10.5692/clinicalneurol.cn-001444. Epub 2020 Oct 27. Rinsho Shinkeigaku. 2020. PMID: 33115993 Japanese.
5,045 results