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Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
Sasaki M, Ishii A, Saito Y, Hirose S. Sasaki M, et al. Among authors: ishii a. Mov Disord. 2014 Jan;29(1):153-4. doi: 10.1002/mds.25659. Epub 2013 Sep 30. Mov Disord. 2014. PMID: 24123283 No abstract available.
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S. Ishii A, et al. PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8. PLoS One. 2013. PMID: 23409136 Free PMC article.
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. Among authors: ishii a. Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15. Neurology. 2014. PMID: 24431296
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation.
Ju J, Hirose S, Shi XY, Ishii A, Hu LY, Zou LP. Ju J, et al. Among authors: ishii a. Orphanet J Rare Dis. 2016 May 4;11(1):55. doi: 10.1186/s13023-016-0438-7. Orphanet J Rare Dis. 2016. PMID: 27146299 Free PMC article.
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.
Ito T, Narugami M, Egawa K, Yamamoto H, Asahina N, Kohsaka S, Ishii A, Hirose S, Shiraishi H. Ito T, et al. Among authors: ishii a. Brain Dev. 2018 Mar;40(3):226-228. doi: 10.1016/j.braindev.2017.11.007. Brain Dev. 2018. PMID: 29269014
Progressive Brain Atrophy in Alternating Hemiplegia of Childhood.
Sasaki M, Ishii A, Saito Y, Hirose S. Sasaki M, et al. Among authors: ishii a. Mov Disord Clin Pract. 2017 Jan 5;4(3):406-411. doi: 10.1002/mdc3.12451. eCollection 2017 May-Jun. Mov Disord Clin Pract. 2017. PMID: 30363489 Free PMC article.
Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion.
Shibata A, Kasai M, Terashima H, Hoshino A, Miyagawa T, Kikuchi K, Ishii A, Matsumoto H, Kubota M, Hirose S, Oka A, Mizuguchi M. Shibata A, et al. Among authors: ishii a. J Neurol Sci. 2020 Jul 15;414:116808. doi: 10.1016/j.jns.2020.116808. Epub 2020 Apr 2. J Neurol Sci. 2020. PMID: 32276107
Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.
Fujita T, Ihara Y, Hayashi H, Ishii A, Ideguchi H, Inoue T, Imaizumi T, Yamamoto T, Hirose S. Fujita T, et al. Among authors: ishii a. Congenit Anom (Kyoto). 2020 Nov;60(6):189-193. doi: 10.1111/cga.12383. Epub 2020 Jul 30. Congenit Anom (Kyoto). 2020. PMID: 32618029
Application of induced pluripotent stem cells in epilepsy.
Hirose S, Tanaka Y, Shibata M, Kimura Y, Ishikawa M, Higurashi N, Yamamoto T, Ichise E, Chiyonobu T, Ishii A. Hirose S, et al. Among authors: ishii a. Mol Cell Neurosci. 2020 Oct;108:103535. doi: 10.1016/j.mcn.2020.103535. Epub 2020 Aug 4. Mol Cell Neurosci. 2020. PMID: 32758699 Review.
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.
Shibata M, Ishii A, Goto A, Hirose S. Shibata M, et al. Among authors: ishii a. J Hum Genet. 2020 Dec 2. doi: 10.1038/s10038-020-00880-z. Online ahead of print. J Hum Genet. 2020. PMID: 33262389
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