Akahori M - Search Results

1

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. Katagiri S, et al. Among authors: akahori m. Ophthalmic Genet. 2015 Jun;36(2):137-44. doi: 10.3109/13816810.2014.991932. Epub 2015 Jan 21. Ophthalmic Genet. 2015. PMID: 25605338

2

LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract.

Tanito M, Minami M, Akahori M, Kaidzu S, Takai Y, Ohira A, Iwata T. Tanito M, et al. Among authors: akahori m. Mol Vis. 2008;14:1898-905. Epub 2008 Oct 27. Mol Vis. 2008. PMID: 18958304 Free PMC article.

3

VAV2 and VAV3 as candidate disease genes for spontaneous glaucoma in mice and humans.

Fujikawa K, Iwata T, Inoue K, Akahori M, Kadotani H, Fukaya M, Watanabe M, Chang Q, Barnett EM, Swat W. Fujikawa K, et al. Among authors: akahori m. PLoS One. 2010 Feb 4;5(2):e9050. doi: 10.1371/journal.pone.0009050. PLoS One. 2010. PMID: 20140222 Free PMC article.

4

Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene.

Fujinami K, Akahori M, Fukui M, Tsunoda K, Iwata T, Miyake Y. Fujinami K, et al. Among authors: akahori m. Acta Ophthalmol. 2011 May;89(3):e297-8. doi: 10.1111/j.1755-3768.2009.01848.x. Acta Ophthalmol. 2011. PMID: 20163366 Free article. No abstract available.

5

Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

Chi ZL, Akahori M, Obazawa M, Minami M, Noda T, Nakaya N, Tomarev S, Kawase K, Yamamoto T, Noda S, Sasaoka M, Shimazaki A, Takada Y, Iwata T. Chi ZL, et al. Among authors: akahori m. Hum Mol Genet. 2010 Jul 1;19(13):2606-15. doi: 10.1093/hmg/ddq146. Epub 2010 Apr 13. Hum Mol Genet. 2010. PMID: 20388642 Free PMC article.

6

Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T. Akahori M, et al. Am J Hum Genet. 2010 Sep 10;87(3):424-9. doi: 10.1016/j.ajhg.2010.08.009. Am J Hum Genet. 2010. PMID: 20826268 Free PMC article.

7

Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion.

Hara K, Akahori M, Tanito M, Kaidzu S, Ohira A, Iwata T. Hara K, et al. Among authors: akahori m. Mol Vis. 2011;17:3309-13. Epub 2011 Dec 17. Mol Vis. 2011. PMID: 22194657 Free PMC article.

8

Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene.

Tsunoda K, Usui T, Hatase T, Yamai S, Fujinami K, Hanazono G, Shinoda K, Ohde H, Akahori M, Iwata T, Miyake Y. Tsunoda K, et al. Among authors: akahori m. Retina. 2012 Jun;32(6):1135-47. doi: 10.1097/IAE.0b013e318232c32e. Retina. 2012. PMID: 22466457

9

A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms.

Kabuto T, Takahashi H, Goto-Fukuura Y, Igarashi T, Akahori M, Kameya S, Iwata T, Mizota A, Yamaki K, Miyake Y, Takahashi H. Kabuto T, et al. Among authors: akahori m. Mol Vis. 2012;18:1031-9. Epub 2012 Apr 24. Mol Vis. 2012. PMID: 22605915 Free PMC article.

10

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.

Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Itabashi T, Iwata T, Ozawa Y, Tsubota K, Miyake Y. Fujinami K, et al. Among authors: akahori m. Mol Vis. 2013 Jul 20;19:1580-90. Print 2013. Mol Vis. 2013. PMID: 23885164 Free PMC article.

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