Date H - Search Results

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: date h. Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507423

2

Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch.

Igarashi S, Koide R, Shimohata T, Yamada M, Hayashi Y, Takano H, Date H, Oyake M, Sato T, Sato A, Egawa S, Ikeuchi T, Tanaka H, Nakano R, Tanaka K, Hozumi I, Inuzuka T, Takahashi H, Tsuji S. Igarashi S, et al. Among authors: date h. Nat Genet. 1998 Feb;18(2):111-7. doi: 10.1038/ng0298-111. Nat Genet. 1998. PMID: 9462738

3

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.

Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S. Date H, et al. Nat Genet. 2001 Oct;29(2):184-8. doi: 10.1038/ng1001-184. Nat Genet. 2001. PMID: 11586299

4

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.

Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I, Nishizawa M. Shimazaki H, et al. Among authors: date h. Neurology. 2002 Aug 27;59(4):590-5. doi: 10.1212/wnl.59.4.590. Neurology. 2002. PMID: 12196655

5

Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.

Sano Y, Date H, Igarashi S, Onodera O, Oyake M, Takahashi T, Hayashi S, Morimatsu M, Takahashi H, Makifuchi T, Fukuhara N, Tsuji S. Sano Y, et al. Among authors: date h. Ann Neurol. 2004 Feb;55(2):241-9. doi: 10.1002/ana.10808. Ann Neurol. 2004. PMID: 14755728

6

The FHA domain of aprataxin interacts with the C-terminal region of XRCC1.

Date H, Igarashi S, Sano Y, Takahashi T, Takahashi T, Takano H, Tsuji S, Nishizawa M, Onodera O. Date H, et al. Biochem Biophys Res Commun. 2004 Dec 24;325(4):1279-85. doi: 10.1016/j.bbrc.2004.10.162. Biochem Biophys Res Commun. 2004. PMID: 15555565

7

Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends.

Takahashi T, Tada M, Igarashi S, Koyama A, Date H, Yokoseki A, Shiga A, Yoshida Y, Tsuji S, Nishizawa M, Onodera O. Takahashi T, et al. Among authors: date h. Nucleic Acids Res. 2007;35(11):3797-809. doi: 10.1093/nar/gkm158. Epub 2007 May 22. Nucleic Acids Res. 2007. PMID: 17519253 Free PMC article.

8

SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data.

Fukuda Y, Nakahara Y, Date H, Takahashi Y, Goto J, Miyashita A, Kuwano R, Adachi H, Nakamura E, Tsuji S. Fukuda Y, et al. Among authors: date h. BMC Bioinformatics. 2009 Apr 24;10:121. doi: 10.1186/1471-2105-10-121. BMC Bioinformatics. 2009. PMID: 19393044 Free PMC article.

9

Mutations for Gaucher disease confer high susceptibility to Parkinson disease.

Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S. Mitsui J, et al. Among authors: date h. Arch Neurol. 2009 May;66(5):571-6. doi: 10.1001/archneurol.2009.72. Arch Neurol. 2009. PMID: 19433656

10

IFNβ-1b may severely exacerbate Japanese optic-spinal MS in neuromyelitis optica spectrum.

Shimizu J, Hatanaka Y, Hasegawa M, Iwata A, Sugimoto I, Date H, Goto J, Shimizu T, Takatsu M, Sakurai Y, Nakase H, Uesaka Y, Hashida H, Hashimoto K, Komiya T, Tsuji S. Shimizu J, et al. Among authors: date h. Neurology. 2010 Oct 19;75(16):1423-7. doi: 10.1212/WNL.0b013e3181f8832e. Epub 2010 Sep 8. Neurology. 2010. PMID: 20826711

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