(7)Ddhd1 knockout mouse as a model for familial spastic paraplegia. Morikawa T, Ohishi H, Kosaka K, Shimojo T, Nagano A, Taniguchi I, Fujioka R, Moriyama K, Unoki M, Takahashi M, Nakao M, Izumi Y, Bamba T, Sasaki H , Miura S, Shibata H. Biosci Rep. 41(2): BSR20204171 (2021).
(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 S, Umehara F, Iwaki T, Yamamoto K, Saitsu H, Shibata H. J Hum Genet. 65(9): 717-725 (2020).
(11)Correlation analysis between thyroid-related hormones and the plasma concentration of amino acids. Fujioka R, Nagai J, Yamanishi Y, Shibata H. Bulletin of Beppu Univ JC. 38:17-23 (2019).
(12)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. Eur J Med Genet. 62: 172-176 (2019).
(13)TDRKH is a candidate gene responsible for an autosomal dominant distal hereditary motor neuropathy. Miura S, Kosaka K, Nomura T, Nagata S, Shimojo T, Morikawa T, Fujioka R, Taniwaki T, Shibata H. Eur J Med Genet. (2019).
(17) 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. Eur J Med Genet. 60(9):474-478 (2017)
(18)Essential tremor aspartic academia. Miura S, Fujioka R, Taniwaki T. Kurume Med J. 63(3.4):81-84(2017)
(20)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. Mol Brain 7:31 (2014)