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Functional Consequences of the Postnatal Switch From Neonatal to Mutant Adult Glycine Receptor α1 Subunits in the Shaky Mouse Model of Startle Disease.
Schaefer N, Zheng F, van Brederode J, Berger A, Leacock S, Hirata H, Paige CJ, Harvey RJ, Alzheimer C, Villmann C. Schaefer N, et al. Among authors: hirata h. Front Mol Neurosci. 2018 May 24;11:167. doi: 10.3389/fnmol.2018.00167. eCollection 2018. Front Mol Neurosci. 2018. PMID: 29910711 Free PMC article.
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stödberg T, McTague A, Ruiz AJ, Hirata H, Zhen J, Long P, Farabella I, Meyer E, Kawahara A, Vassallo G, Stivaros SM, Bjursell MK, Stranneheim H, Tigerschiöld S, Persson B, Bangash I, Das K, Hughes D, Lesko N, Lundeberg J, Scott RC, Poduri A, Scheffer IE, Smith H, Gissen P, Schorge S, Reith ME, Topf M, Kullmann DM, Harvey RJ, Wedell A, Kurian MA. Stödberg T, et al. Among authors: hirata h. Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038. Nat Commun. 2015. PMID: 26333769 Free PMC article.
Defects of the Glycinergic Synapse in Zebrafish.
Ogino K, Hirata H. Ogino K, et al. Among authors: hirata h. Front Mol Neurosci. 2016 Jun 29;9:50. doi: 10.3389/fnmol.2016.00050. eCollection 2016. Front Mol Neurosci. 2016. PMID: 27445686 Free PMC article. Review.
Glycine Receptor Autoantibodies Impair Receptor Function and Induce Motor Dysfunction.
Rauschenberger V, von Wardenburg N, Schaefer N, Ogino K, Hirata H, Lillesaar C, Kluck CJ, Meinck HM, Borrmann M, Weishaupt A, Doppler K, Wickel J, Geis C, Sommer C, Villmann C. Rauschenberger V, et al. Among authors: hirata h. Ann Neurol. 2020 Sep;88(3):544-561. doi: 10.1002/ana.25832. Epub 2020 Jul 20. Ann Neurol. 2020. PMID: 32588476
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. Reid KM, et al. Among authors: hirata h. Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25. Mov Disord. 2022. PMID: 35876425 Free PMC article.
1,482 results