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3,457 results

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CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy.
Hirano M, Kuwahara M, Yamagishi Y, Samukawa M, Fujii K, Yamashita S, Ando M, Oka N, Nagano M, Matsui T, Takeuchi T, Saigoh K, Kusunoki S, Takashima H, Nagai Y. Hirano M, et al. Among authors: ando m. Sci Rep. 2023 Oct 18;13(1):17801. doi: 10.1038/s41598-023-45011-8. Sci Rep. 2023. PMID: 37853169 Free PMC article.
Partial deficiency of emerin caused by a splice site mutation in EMD.
Yuan J, Ando M, Higuchi I, Sakiyama Y, Matsuura E, Michizono K, Watanabe O, Nagano S, Inamori Y, Hashiguchi A, Higuchi Y, Yoshimura A, Takashima H. Yuan J, et al. Among authors: ando m. Intern Med. 2014;53(14):1563-8. doi: 10.2169/internalmedicine.53.8922. Epub 2014 Jul 15. Intern Med. 2014. PMID: 25030574 Free 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: ando m. 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
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H. Yuan JH, et al. Among authors: ando m. J Hum Genet. 2018 Mar;63(3):281-287. doi: 10.1038/s10038-017-0388-5. Epub 2018 Jan 10. J Hum Genet. 2018. PMID: 29321516
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: ando m. Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104. Brain. 2018. PMID: 29718187 Free PMC article.
Peripheral neuropathy in a case with CADASIL: a case report.
Sakiyama Y, Matsuura E, Maki Y, Yoshimura A, Ando M, Nomura M, Shinohara K, Saigo R, Nakamura T, Hashiguchi A, Takashima H. Sakiyama Y, et al. Among authors: ando m. BMC Neurol. 2018 Aug 31;18(1):134. doi: 10.1186/s12883-018-1131-3. BMC Neurol. 2018. PMID: 30170552 Free PMC article.
3,457 results