Mitochondrial dysfunction in the pathogenesis of oculopharyngeal muscular dystrophy
Doki, T, Yamashita, S, Zhang, Z, Zhang, X, Tawara, N, Maeda, Y, Hino, H, Uyama, E, Araki, K, Ando, Y
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Phenotype analysis of transgenic mice expressing mutant PABPN1
Doki, T, Yamashita, S, Nishikami, T, Nakajou, Y, Matsuo, Y, Tawara, N, Maeda, Y, Hino, H, Uyama, E, Araki, K, Ando, Y
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24
Plaster, N M, Uyama, E, Uchino, M, Ikeda, T, Flanigan, K M, Kondo, I, Ptácek, L J
Published in Neurology (12.10.1999)
Published in Neurology (12.10.1999)
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Detection of granular osmiophilic material of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy by light microscopy in frozen sections
Ueda, A., Hirano, T., Takahashi, K., Kurisaki, R., Hino, H., Uyama, E., Uchino, M.
Published in Neuropathology and applied neurobiology (01.11.2009)
Published in Neuropathology and applied neurobiology (01.11.2009)
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Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome
Aono, S., Keino, H., Yamada, Y., Adachi, Y., Nanno, T., Uyama, E., Koiwai, O., Sato, H.
Published in The Lancet (British edition) (15.04.1995)
Published in The Lancet (British edition) (15.04.1995)
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A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region
Uyama, E., Yamada, K., Kawano, H., Chan, W.-M., Andrews, C., Yoshioka, M., Uchino, M., Engle, E.C.
Published in Neuromuscular disorders : NMD (01.08.2003)
Published in Neuromuscular disorders : NMD (01.08.2003)
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A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita
Sasaki, R., Ito, N., Shimamura, M., Murakami, T., Kuzuhara, S., Uchino, M., Uyama, E.
Published in Muscle & nerve (01.03.2001)
Published in Muscle & nerve (01.03.2001)
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The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease
Orvisky, E., Park, J.K., Parker, A., Walker, J.M., Martin, B.M., Stubblefield, B.K., Uyama, E., Tayebi, N., Sidransky, E.
Published in Human mutation (01.04.2002)
Published in Human mutation (01.04.2002)
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Efficient repetitive gene delivery to skeletal muscle using recombinant adenovirus vector containing the Coxsackievirus and adenovirus receptor cDNA
KIMURA, E, MAEDA, Y, ARIMA, T, NISHIDA, Y, YAMASHITA, S, HARA, A, UYAMA, E, MITA, S, UCHINO, M
Published in Gene therapy (2001)
Published in Gene therapy (2001)
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High signal in the spinal cord on T2-weighted images in rapidly progressive tropical spastic paraparesis
WATANABE, M, YAMASHITA, T, HARA, A, MURAKAMI, T, ANDO, Y, UYAMA, E, MITA, S, UCHINO, M
Published in Neuroradiology (01.03.2001)
Published in Neuroradiology (01.03.2001)
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Deep venous thrombosis in patients with neuromuscular disorders: A multicenter, prospective study
Nakajima, M., Watari, M., Uyama, E., Honda, S., Suga, T., Ando, Y.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis
Utsumi, K., Tsuji, A., Kase, R., Tanaka, A., Tanaka, T., Uyama, E., Ozawa, T., Sakuraba, H., Komaba, Y., Kawabe, M., Iino, Y., Katayama, Y.
Published in Acta neurologica Scandinavica (01.06.2002)
Published in Acta neurologica Scandinavica (01.06.2002)
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Posteroventral pallidotomy in a patient with parkinsonism caused by hypoxic encephalopathy
Goto, S, Kunitoku, N, Soyama, N, Yamada, K, Okamura, A, Yoshikawa, M, Hirata, Y, Uyama, E, Ushio, Y
Published in Neurology (01.09.1997)
Published in Neurology (01.09.1997)
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Polyalanine expansion in PABPN1 causes mitochondrial dysfunction
Doki, T., Yamashita, S., Wei, F.Y., Zhang, X., Zhang, Z., Tawara, N., Hino, H., Uyama, E., Araki, K., Ando, Y.
Published in Journal of the neurological sciences (15.10.2017)
Published in Journal of the neurological sciences (15.10.2017)
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Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case
Hara, A., Uyama, E., Uchino, M., Shimmoto, M., Utsumi, K., Itoh, K., Kase, R., Naito, M., Sugiyama, E., Taketomi, T., Sukegawa, K., Sakuraba, H.
Published in Journal of the neurological sciences (18.02.1998)
Published in Journal of the neurological sciences (18.02.1998)
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Molecular and structural studies of the GM2 gangliosidosis 0 variant
Sakuraba, Hitoshi, Matsuzawa, Fumiko, Aikawa, Sei-ichi, Doi, Hirofumi, Kotani, Masaharu, Lin, Hou, Ohno, Kousaku, Tanaka, Akemi, Yamada, Hideo, Uyama, Ei-ichiro
Published in Journal of human genetics (01.01.2002)
Published in Journal of human genetics (01.01.2002)
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