Addendum: Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea‐acanthocytosis. A. Tomiyasu, M. Nakamura, M. Ichiba, S. Ueno, S. Saiki, M. Morimoto, J. Kobal, Y. Kageyama, T. Inui, K. Wakabayashi, T. Yamada, Y. Kanemori, H. Jung, H. Tanaka, S. Orimo, Z. Afawi, I. Blatt, J. Aasly, H. Ujike, D. Babovic‐Vuksanovic, K. A. Josephs, R.

Abstract

American Journal of Medical Genetics Part B: Neuropsychiatric GeneticsVolume 159B, Issue 3 p. 360-360 AddendumFree Access Addendum: Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis. A. Tomiyasu, M. Nakamura, M. Ichiba, S. Ueno, S. Saiki, M. Morimoto, J. Kobal, Y. Kageyama, T. Inui, K. Wakabayashi, T. Yamada, Y. Kanemori, H. Jung, H. Tanaka, S. Orimo, Z. Afawi, I. Blatt, J. Aasly, H. Ujike, D. Babovic-Vuksanovic, K. A. Josephs, R. Tohge, G. R. Rodrigues, N. Dupré, H. Yamada, F. Yokochi, K. Kotschet, T. Takei, M. Rudzinska, A. Szczudlik, S. Penco, M. Fujiwara, K. Tojo, and A. Sano. This article corrects the following: Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis Akiyuki Tomiyasu, Masayuki Nakamura, Mio Ichiba, Shuichi Ueno, Shinji Saiki, Mizuki Morimoto, Jan Kobal, Yasufumi Kageyama, Toshio Inui, Koichi Wakabayashi, Tatsuo Yamada, Yuji Kanemori, Hans H. Jung, Haruhiko Tanaka, Satoshi Orimo, Zaid Afawi, Ilan Blatt, Jan Aasly, Hiroshi Ujike, Dusica Babovic-Vuksanovic, Keith A. Josephs, Rie Tohge, Guilherme Riccioppo Rodrigues, Nicolas Dupré, Hidetaka Yamada, Fusako Yokochi, Katya Kotschet, Takanobu Takei, Monika Rudzińska, Andrzej Szczudlik, Silvana Penco, Masaki Fujiwara, Kana Tojo, Akira Sano, Volume 156Issue 5American Journal of Medical Genetics Part B: Neuropsychiatric Genetics pages: 620-631 First Published online: May 19, 2011 First published: 21 February 2012 https://doi.org/10.1002/ajmg.b.32039AboutSectionsPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Prior to the publication of Tomiyasu et al. 2011, Dr. Benedikt Bader, with the support of the Advocacy for Neuroacanthocytosis Patients, performed Western blot analysis for chorein and identified low or no expression of chorein in erythrocyte membrane in patients 11, 12, 20, 28, 31, and 32 from Tomiyasu et al. 2011. This was performed in the labs of Profs. Hans Kretzschmar and Adrian Danek, Neuropathology and Neurology, respectively, at the University of Munich. The authors wish that the Western blot results combined with the original results lead to a better understanding of molecular pathogenesis of the disease. REFERENCE 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, Rudzinska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A. 2011. Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis Am J Med Genet Part B 156B: 620– 631. DOI: 10.1002/ajmg.b.31206 Wiley Online LibraryCASPubMedWeb of Science®Google Scholar Volume159B, Issue3April 2012Pages 360-360 ReferencesRelatedInformation