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Page 1
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: tohge r. 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
[Cerebral amyloid angiopathy-related transient focal neurological episodes with diffusion-weighted imaging hyperintense lesions in subcortical white matter and cortical superficial siderosis].
Murakami A, Nakamura M, Tohge R, Kunieda T, Kaneko S, Yakushiji Y. Murakami A, et al. Among authors: tohge r. Rinsho Shinkeigaku. 2021 Dec 22;61(12):874-877. doi: 10.5692/clinicalneurol.cn-001638. Epub 2021 Nov 18. Rinsho Shinkeigaku. 2021. PMID: 34789627 Japanese.
11 results