1 - 25 of 41 results for author:"Onodera O." in Literature citations
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| Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage. Obayashi M., Ishikawa K., Izumi Y., Takahashi M., Niimi Y., Sato N., Onodera O., Kaji R., Nishizawa M., Mizusawa H. J. Hum. Genet. 57:202-206(2012) · Mapped (8) |
| [Dementia: progress in diagnosis and treatment; Topics, V. Recent topics; 4. Detection of novel dementia-related genes; 2) Dysregulation of TGF-beta family signaling and hereditary cerebral small vessel disease: insight into molecular pathogenesis of CARASIL]. Nozaki H., Nishizawa M., Onodera O. Nippon Naika Gakkai Zasshi 100:2207-2213(2011) · Mapped (4) |
| Functional characterization of the P1059L mutation in the inositol 1,4,5-trisphosphate receptor type 1 identified in a Japanese SCA15 family. Yamazaki H., Nozaki H., Onodera O., Michikawa T., Nishizawa M., Mikoshiba K. Biochem. Biophys. Res. Commun. 410:754-758(2011) · Mapped (6) |
| Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-beta1 via cleavage of proTGF-beta1. Shiga A., Nozaki H., Yokoseki A., Nihonmatsu M., Kawata H., Kato T., Koyama A., Arima K., Ikeda M., Katada S. et al. Hum. Mol. Genet. 20:1800-1810(2011) · Mapped (13) |
| Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. Matsukawa T., Asheuer M., Takahashi Y., Goto J., Suzuki Y., Shimozawa N., Takano H., Onodera O., Nishizawa M., Aubourg P. et al. Neurogenetics 12:41-50(2011) · Mapped (9) |
| Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length. Hasegawa A., Ikeuchi T., Koike R., Matsubara N., Tsuchiya M., Nozaki H., Homma A., Idezuka J., Nishizawa M., Onodera O. Mov. Disord. 25:1694-1700(2010) · Mapped (2) |
| Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly. Maksimova N., Hara K., Nikolaeva I., Chun-Feng T., Usui T., Takagi M., Nishihira Y., Miyashita A., Fujiwara H., Oyama T. et al. J. Med. Genet. 47:538-548(2010) · UniProtKB (1) · Mapped (3) |
| The implications of TDP-43 mutations in pathogenesis of amyotrophic lateral sclerosis. Ishihara T., Yokoseki A., Nishizawa M., Takahashi H., Onodera O. Brain Nerve 61:1301-1307(2009) · Mapped (5) |
| Selective occurrence of TDP-43-immunoreactive inclusions in the lower motor neurons in Machado-Joseph disease. Tan C.F., Yamada M., Toyoshima Y., Yokoseki A., Miki Y., Hoshi Y., Kaneko H., Ikeuchi T., Onodera O., Kakita A. et al. Acta Neuropathol. 118:553-560(2009) · Mapped (5) |
| Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. Hara K., Shiga A., Fukutake T., Nozaki H., Miyashita A., Yokoseki A., Kawata H., Koyama A., Arima K., Takahashi T. et al. N. Engl. J. Med. 360:1729-1739(2009) · UniProtKB (1) · Mapped (3) |
| Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice. Sato T., Miura M., Yamada M., Yoshida T., Wood J.D., Yazawa I., Masuda M., Suzuki T., Shin R.M., Yau H.J. et al. Hum. Mol. Genet. 18:723-736(2009) · UniProtKB (1) · Mapped (2) |
| Sporadic amyotrophic lateral sclerosis of long duration is associated with relatively mild TDP-43 pathology. Nishihira Y., Tan C.F., Hoshi Y., Iwanaga K., Yamada M., Kawachi I., Tsujihata M., Hozumi I., Morita T., Onodera O. et al. Acta Neuropathol. 117:45-53(2009) · Mapped (5) |
| Cardiac sympathetic denervation in Parkinson's disease linked to SNCA duplication. Orimo S., Uchihara T., Nakamura A., Mori F., Ikeuchi T., Onodera O., Nishizawa M., Ishikawa A., Kakita A., Wakabayashi K. et al. Acta Neuropathol. 116:575-577(2008) · Mapped (7) |
| Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations. Ikeuchi T., Kaneko H., Miyashita A., Nozaki H., Kasuga K., Tsukie T., Tsuchiya M., Imamura T., Ishizu H., Aoki K. et al. Dement Geriatr Cogn Disord 26:43-49(2008) · Mapped (6) |
| Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Hara K., Shiga A., Nozaki H., Mitsui J., Takahashi Y., Ishiguro H., Yomono H., Kurisaki H., Goto J., Ikeuchi T. et al. Neurology 71:547-551(2008) · Mapped (2) |
| The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia). Maksimova N.R., Nikolaeva I.A., Korotkov M.N., Ikeuchi T., Onodera O., Nishizava M., Stepanova S.K., Kurtanov K.h.A., Sukhomiasova A.L., Nogovitsyna A.N. et al. Zh Nevrol Psikhiatr Im S S Korsakova 108:52-60(2008) · Mapped (2) |
| TDP-43 mutation in familial amyotrophic lateral sclerosis. Yokoseki A., Shiga A., Tan C.F., Tagawa A., Kaneko H., Koyama A., Eguchi H., Tsujino A., Ikeuchi T., Kakita A. et al. |
| Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. Ikeuchi T., Kakita A., Shiga A., Kasuga K., Kaneko H., Tan C.F., Idezuka J., Wakabayashi K., Onodera O., Iwatsubo T. et al. Arch. Neurol. 65:514-519(2008) · Mapped (7) |
| Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia. Maksimova N., Hara K., Miyashia A., Nikolaeva I., Shiga A., Nogovicina A., Sukhomyasova A., Argunov V., Shvedova A., Ikeuchi T. et al. J. Med. Genet. 44:772-778(2007) · Mapped (4) |
| Generation of intracellular domain of insulin receptor tyrosine kinase by gamma-secretase. Kasuga K., Kaneko H., Nishizawa M., Onodera O., Ikeuchi T. Biochem. Biophys. Res. Commun. 360:90-96(2007) · Mapped (15) |
| 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. et al. Nucleic Acids Res. 35:3797-3809(2007) |
| Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population. Nozaki H., Ikeuchi T., Kawakami A., Kimura A., Koide R., Tsuchiya M., Nakmura Y., Mutoh T., Yamamoto H., Nakao N. et al. Mov. Disord. 22:857-862(2007) · Mapped (2) |
| New mutation in the non-gigantic exon of SACS in Japanese siblings. Takado Y., Hara K., Shimohata T., Tokiguchi S., Onodera O., Nishizawa M. Mov. Disord. 22:748-749(2007) · UniProtKB (1) |
| Selective silencing of a mutant transthyretin allele by small interfering RNAs. Kurosawa T., Igarashi S., Nishizawa M., Onodera O. Biochem. Biophys. Res. Commun. 337:1012-1018(2005) · Mapped (6) |
| 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. Biochem. Biophys. Res. Commun. 325:1279-1285(2004) · Mapped (7) |