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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
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
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.
[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.
1,021 results