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Page 1
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein.
Urata Y, Nakamura M, Sasaki N, Shiokawa N, Nishida Y, Arai K, Hiwatashi H, Yokoyama I, Narumi S, Terayama Y, Murakami T, Ugawa Y, Sakamoto H, Kaneko S, Nakazawa Y, Yamasaki R, Sadashima S, Sakai T, Arai H, Sano A. Urata Y, et al. Among authors: hiwatashi h. Neurol Genet. 2019 Apr 22;5(3):e328. doi: 10.1212/NXG.0000000000000328. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31086825 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: hiwatashi h. Neurol Genet. 2019 May 1;5(3):e332. doi: 10.1212/NXG.0000000000000332. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31192303 Free PMC article.
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A. Terasaki A, et al. Among authors: hiwatashi h. J Hum Genet. 2021 Apr;66(4):419-429. doi: 10.1038/s10038-020-00855-0. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040085
Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A. Terasaki A, et al. Among authors: hiwatashi h. J Hum Genet. 2021 Apr;66(4):449-450. doi: 10.1038/s10038-020-00867-w. J Hum Genet. 2021. PMID: 33184460 No abstract available.
Chorein deficiency promotes ferroptosis.
Nishizawa Y, Sakimoto H, Nagata O, Sasaki N, Urata Y, Arai K, Hiwatashi H, Yokoyama I, Kishida S, Sano A, Nakamura M. Nishizawa Y, et al. Among authors: hiwatashi h. FEBS Open Bio. 2025 Jan;15(1):58-68. doi: 10.1002/2211-5463.13870. Epub 2024 Nov 8. FEBS Open Bio. 2025. PMID: 39514409 Free PMC article.