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15,177 results

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Page 1
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S. Ishiura H, et al. Among authors: nakamura m. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423
Chorein deficiency leads to upregulation of gephyrin and GABA(A) receptor.
Kurano Y, Nakamura M, Ichiba M, Matsuda M, Mizuno E, Kato M, Izumo S, Sano A. Kurano Y, et al. Among authors: nakamura m. Biochem Biophys Res Commun. 2006 Dec 15;351(2):438-42. doi: 10.1016/j.bbrc.2006.10.070. Epub 2006 Oct 20. Biochem Biophys Res Commun. 2006. PMID: 17070500
In vivo distribution and localization of chorein.
Kurano Y, Nakamura M, Ichiba M, Matsuda M, Mizuno E, Kato M, Agemura A, Izumo S, Sano A. Kurano Y, et al. Among authors: nakamura m. Biochem Biophys Res Commun. 2007 Feb 9;353(2):431-5. doi: 10.1016/j.bbrc.2006.12.059. Epub 2006 Dec 18. Biochem Biophys Res Commun. 2007. PMID: 17188237
Differences in two mice strains on kainic acid-induced amygdalar seizures.
Kasugai M, Akaike K, Imamura S, Matsukubo H, Tojo H, Nakamura M, Tanaka S, Sano A. Kasugai M, et al. Among authors: nakamura m. Biochem Biophys Res Commun. 2007 Jun 15;357(4):1078-83. doi: 10.1016/j.bbrc.2007.04.067. Epub 2007 Apr 19. Biochem Biophys Res Commun. 2007. PMID: 17467670
[Neuroacanthocytosis update].
Ichiba M, Nakamura M, Sano A. Ichiba M, et al. Among authors: nakamura m. Brain Nerve. 2008 Jun;60(6):635-41. Brain Nerve. 2008. PMID: 18567359 Review. Japanese.
Familial semantic dementia with P301L mutation in the Tau gene.
Ishizuka T, Nakamura M, Ichiba M, Sano A. Ishizuka T, et al. Among authors: nakamura m. Dement Geriatr Cogn Disord. 2011;31(5):334-40. doi: 10.1159/000328412. Epub 2011 May 10. Dement Geriatr Cogn Disord. 2011. PMID: 21555888
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