Fujioka R - Search Results

1

Comprehensive behavioral study of mGluR3 knockout mice: implication in schizophrenia related endophenotypes.

Fujioka R, Nii T, Iwaki A, Shibata A, Ito I, Kitaichi K, Nomura M, Hattori S, Takao K, Miyakawa T, Fukumaki Y. Fujioka R, et al. Mol Brain. 2014 Apr 23;7:31. doi: 10.1186/1756-6606-7-31. Mol Brain. 2014. PMID: 24758191 Free PMC article.

2

A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia.

Sano K, Miura S, Fujiwara T, Fujioka R, Yorita A, Noda K, Kida H, Azuma K, Kaieda S, Yamamoto K, Taniwaki T, Fukumaki Y, Shibata H. Sano K, et al. Among authors: fujioka r. J Neurol Sci. 2015 Sep 15;356(1-2):142-7. doi: 10.1016/j.jns.2015.06.035. Epub 2015 Jun 19. J Neurol Sci. 2015. PMID: 26119398

3

A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.

Miura S, Morikawa T, Fujioka R, Kosaka K, Yamada K, Hattori G, Motomura M, Taniwaki T, Shibata H. Miura S, et al. Among authors: fujioka r. Eur J Med Genet. 2016 Aug;59(8):413-6. doi: 10.1016/j.ejmg.2016.05.010. Epub 2016 May 20. Eur J Med Genet. 2016. PMID: 27216551

4

Essential Tremor with Aspartic Acidemia.

Miura S, Fujioka R, Taniwaki T. Miura S, et al. Among authors: fujioka r. Kurume Med J. 2017 May 8;63(3.4):81-84. doi: 10.2739/kurumemedj.MS00015. Epub 2017 Mar 15. Kurume Med J. 2017. PMID: 28302933 Free article. Review.

5

A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy.

Miura S, Morikawa T, Fujioka R, Noda K, Kosaka K, Taniwaki T, Shibata H. Miura S, et al. Among authors: fujioka r. Eur J Med Genet. 2017 Sep;60(9):474-478. doi: 10.1016/j.ejmg.2017.06.006. Epub 2017 Jun 19. Eur J Med Genet. 2017. PMID: 28642160

6

Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.

Miura S, Kosaka K, Fujioka R, Uchiyama Y, Shimojo T, Morikawa T, Irie A, Taniwaki T, Shibata H. Miura S, et al. Among authors: fujioka r. Eur J Med Genet. 2019 Mar;62(3):172-176. doi: 10.1016/j.ejmg.2018.07.005. Epub 2018 Jul 11. Eur J Med Genet. 2019. PMID: 30017992

7

TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.

Miura S, Kosaka K, Nomura T, Nagata S, Shimojo T, Morikawa T, Fujioka R, Harada M, Taniwaki T, Shibata H. Miura S, et al. Among authors: fujioka r. Eur J Med Genet. 2019 Dec;62(12):103594. doi: 10.1016/j.ejmg.2018.11.028. Epub 2018 Nov 30. Eur J Med Genet. 2019. PMID: 30503856

8

Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.

Miura S, Kosaka K, Shimojo T, Matsuura E, Noda K, Fujioka R, Mori SI, Umehara F, Iwaki T, Yamamoto K, Saitsu H, Shibata H. Miura S, et al. Among authors: fujioka r. J Hum Genet. 2020 Sep;65(9):717-725. doi: 10.1038/s10038-020-0761-7. Epub 2020 Apr 27. J Hum Genet. 2020. PMID: 32341455

9

Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEA.

Miura S, Shimojo T, Morikawa T, Kamada T, Uchiyama Y, Kurata S, Fujioka R, Shibata H. Miura S, et al. Among authors: fujioka r. J Hum Genet. 2021 Aug;66(8):805-811. doi: 10.1038/s10038-021-00914-0. Epub 2021 Mar 10. J Hum Genet. 2021. PMID: 33692494

10

Plasma amino acids in patients with essential tremor.

Miura S, Kamada T, Fujioka R, Yamanishi Y. Miura S, et al. Among authors: fujioka r. Clin Case Rep. 2021 Aug 16;9(8):e04580. doi: 10.1002/ccr3.4580. eCollection 2021 Aug. Clin Case Rep. 2021. PMID: 34429988 Free PMC article.

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