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Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
Rosewich H, Sweney MT, DeBrosse S, Ess K, Ozelius L, Andermann E, Andermann F, Andrasco G, Belgrade A, Brashear A, Ciccodicola S, Egan L, George AL Jr, Lewelt A, Magelby J, Merida M, Newcomb T, Platt V, Poncelin D, Reyna S, Sasaki M, Sotero de Menezes M, Sweadner K, Viollet L, Zupanc M, Silver K, Swoboda K. Rosewich H, et al. Among authors: sasaki m. Neurol Genet. 2017 Mar 2;3(2):e139. doi: 10.1212/NXG.0000000000000139. eCollection 2017 Apr. Neurol Genet. 2017. PMID: 28293679 Free PMC article.
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group. Heinzen EL, et al. Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Lancet Neurol. 2014. PMID: 24739246 Free PMC article. Review.
Genotype-phenotype correlations in alternating hemiplegia of childhood.
Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S. Sasaki M, et al. Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15. Neurology. 2014. PMID: 24431296
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima M, Tsurusaki Y, Miyake N, Ogata K, Matsumoto N, Saitsu H. Miyatake S, et al. Among authors: sasaki m. Neurology. 2014 Jun 17;82(24):2230-7. doi: 10.1212/WNL.0000000000000535. Epub 2014 May 21. Neurology. 2014. PMID: 24850488
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: sasaki m. J Hum Genet. 2016 Jun;61(6):527-31. doi: 10.1038/jhg.2016.9. Epub 2016 Feb 18. J Hum Genet. 2016. PMID: 26888482
6,072 results