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1,873 results
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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: hirose s. 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.
Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.
Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S. Sakakibara T, et al. Among authors: hirose s. Epilepsia. 2009 Sep;50(9):2158-62. doi: 10.1111/j.1528-1167.2009.02175.x. Epub 2009 Jun 26. Epilepsia. 2009. PMID: 19563349
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. Among authors: hirose s. PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8. PLoS One. 2013. PMID: 23409136 Free PMC article.
A case of severe progressive early-onset epileptic encephalopathy: unique GABAergic interneuron distribution and imaging.
Inoue T, Kawawaki H, Kuki I, Nabatame S, Tomonoh Y, Sukigara S, Horino A, Nukui M, Okazaki S, Tomiwa K, Kimura-Ohba S, Inoue T, Hirose S, Shiomi M, Itoh M. Inoue T, et al. Among authors: hirose s. J Neurol Sci. 2013 Apr 15;327(1-2):65-72. doi: 10.1016/j.jns.2013.01.038. Epub 2013 Feb 16. J Neurol Sci. 2013. PMID: 23422026
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: hirose s. 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: hirose s. 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: hirose s. 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: hirose s. 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.
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: hirose s. Congenit Anom (Kyoto). 2020 Nov;60(6):189-193. doi: 10.1111/cga.12383. Epub 2020 Jul 30. Congenit Anom (Kyoto). 2020. PMID: 32618029
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: hirose s. 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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