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Page 1
A gene-targeted mouse model for chorea-acanthocytosis.
Tomemori Y, Ichiba M, Kusumoto A, Mizuno E, Sato D, Muroya S, Nakamura M, Kawaguchi H, Yoshida H, Ueno S, Nakao K, Nakamura K, Aiba A, Katsuki M, Sano A. Tomemori Y, et al. Among authors: sano a. J Neurochem. 2005 Feb;92(4):759-66. doi: 10.1111/j.1471-4159.2004.02924.x. J Neurochem. 2005. PMID: 15686477 Free article.
Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor.
Kurano Y, Nakamura M, Ichiba M, Matsuda M, Mizuno E, Kato M, Izumo S, Sano A. Kurano Y, et al. Among authors: sano a. Biochem Biophys Res Commun. 2006 Dec 15;351(2):438-42. doi: 10.1016/j.bbrc.2006.10.070. Epub 2006 Oct 20. Biochem Biophys Res Commun. 2006. PMID: 17070500
In vivo distribution and localization of chorein.
Kurano Y, Nakamura M, Ichiba M, Matsuda M, Mizuno E, Kato M, Agemura A, Izumo S, Sano A. Kurano Y, et al. Among authors: sano a. Biochem Biophys Res Commun. 2007 Feb 9;353(2):431-5. doi: 10.1016/j.bbrc.2006.12.059. Epub 2006 Dec 18. Biochem Biophys Res Commun. 2007. PMID: 17188237
Clinical and molecular genetic assessment of a chorea-acanthocytosis pedigree.
Ichiba M, Nakamura M, Kusumoto A, Mizuno E, Kurano Y, Matsuda M, Kato M, Agemura A, Tomemori Y, Muroya S, Nakabeppu Y, Sano A. Ichiba M, et al. Among authors: sano a. J Neurol Sci. 2007 Dec 15;263(1-2):124-32. doi: 10.1016/j.jns.2007.07.011. Epub 2007 Aug 1. J Neurol Sci. 2007. PMID: 17673232
[Neuroacanthocytosis update].
Ichiba M, Nakamura M, Sano A. Ichiba M, et al. Among authors: sano a. Brain Nerve. 2008 Jun;60(6):635-41. Brain Nerve. 2008. PMID: 18567359 Review. Japanese.
Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.
Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt I, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Rodrigues GR, Dupré N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzińska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A. Tomiyasu A, et al. Among authors: sano a. Am J Med Genet B Neuropsychiatr Genet. 2011 Jul;156B(5):620-31. doi: 10.1002/ajmg.b.31206. Epub 2011 May 19. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21598378
1,012 results