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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: sano a. Neurol Genet. 2019 May 1;5(3):e332. doi: 10.1212/NXG.0000000000000332. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31192303 Free PMC article.
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: sano a. Neurol Genet. 2019 Apr 22;5(3):e328. doi: 10.1212/NXG.0000000000000328. eCollection 2019 Jun. Neurol Genet. 2019. PMID: 31086825 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: sano a. 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
Sleep Disorders in Four Patients With Myotonic Dystrophy Type 1.
Urata Y, Nakamura M, Shiokawa N, Yasuniwa A, Takamori N, Imamura K, Hayashi T, Ishizuka T, Kasugai M, Sano A. Urata Y, et al. Among authors: sano a. Front Neurol. 2020 Feb 14;11:12. doi: 10.3389/fneur.2020.00012. eCollection 2020. Front Neurol. 2020. PMID: 32117000 Free PMC article.
Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece.
Nagata O, Nakamura M, Sakimoto H, Urata Y, Sasaki N, Shiokawa N, Sano A. Nagata O, et al. Among authors: sano a. Biochem Biophys Res Commun. 2018 Sep 5;503(2):915-920. doi: 10.1016/j.bbrc.2018.06.096. Epub 2018 Jun 21. Biochem Biophys Res Commun. 2018. PMID: 29928881
985 results