Date H - Search Results

1

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.

Yokoseki A, Ishihara T, Koyama A, Shiga A, Yamada M, Suzuki C, Sekijima Y, Maruta K, Tsuchiya M, Date H, Sato T, Tada M, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O. Yokoseki A, et al. Among authors: date h. Brain. 2011 May;134(Pt 5):1387-99. doi: 10.1093/brain/awr069. Epub 2011 Apr 12. Brain. 2011. PMID: 21486904

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

Ataxia with isolated vitamin E deficiency and retinitis pigmentosa.

Shimohata T, Date H, Ishiguro H, Suzuki T, Takano H, Tanaka H, Tsuji S, Hirota K. Shimohata T, et al. Among authors: date h. Ann Neurol. 1998 Feb;43(2):273. doi: 10.1002/ana.410430222. Ann Neurol. 1998. PMID: 9485073 No abstract available.

4

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

5

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

6

A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.

Arai A, Tanaka K, Ikeuchi T, Igarashi S, Kobayashi H, Asaka T, Date H, Saito M, Tanaka H, Kawasaki S, Uyama E, Mizusawa H, Fukuhara N, Tsuji S. Arai A, et al. Among authors: date h. Ann Neurol. 2002 Oct;52(4):516-9. doi: 10.1002/ana.10341. Ann Neurol. 2002. PMID: 12325084

7

Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.

Sekijima Y, Hashimoto T, Onodera O, Date H, Okano T, Naito K, Tsuji S, Ikeda S. Sekijima Y, et al. Among authors: date h. Mov Disord. 2003 Oct;18(10):1198-200. doi: 10.1002/mds.10526. Mov Disord. 2003. PMID: 14534929

8

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

9

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

10

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.

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