Search Results - "Shimadzu, M."

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    Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations by FURUKAWA, Y, GRAF, W. D, WONG, H, SHIMADZU, M, KISH, S. J

    Published in Neurology (23-01-2001)
    “…Spastic paraplegia is not widely recognized to occur in dopa-responsive dystonia (DRD). The authors found a compound heterozygote for novel mutations of the…”
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    Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia by FURUKAWA, Y, NYGAARD, T. G, HAYCOCK, J. W, KISH, S. J, GÜTLICH, M, RAJPUT, A. H, PIFL, C, DISTEFANO, L, CHANG, L. J, PRICE, K, SHIMADZU, M, HORNYKIEWICZ, O

    Published in Neurology (22-09-1999)
    “…To determine the mechanism leading to striatal dopamine (DA) loss in dopa-responsive dystonia (DRD). Although mutations in the gene GCH1, coding for the…”
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    Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia by Furukawa, Y, Lang, A E, Trugman, J M, Bird, T D, Hunter, A, Sadeh, M, Tagawa, T, St George-Hyslop, P H, Guttman, M, Morris, L W, Hornykiewicz, O, Shimadzu, M, Kish, S J

    Published in Neurology (01-04-1998)
    “…We evaluated the influence of gender on penetrance of GTP-cyclohydrolase I (GCH) gene mutations in hereditary progressive dystonia/dopa-responsive dystonia…”
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    Estimation of plasma and saliva levels of coenzyme Q10 and influence of oral supplementation by Sekine, K., Ota, N., Nishii, M., Uetake, T., Shimadzu, M.

    Published in BioFactors (Oxford) (2005)
    “…Coenzyme Q10 (CoQ10) levels in human saliva were measured by HPLC with a highly sensitive electrochemical detector (ECD) and a special concentration column…”
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    Comparison of gyrA and parC mutations and resistance levels among fluoroquinolone-resistant isolates and laboratory-derived mutants of oral streptococci by Kaneko, Akihiro, Sasaki, Jiro, Shimadzu, Mitsunobu, Kanayama, Akiko, Saika, Takeshi, Kobayashi, Intetsu

    Published in Journal of antimicrobial chemotherapy (01-06-2000)
    “…Laboratory-derived fluoroquinolone-resistant mutants were obtained by serial passage of Streptococcus sanguis and Streptococcus anginosus isolates on agar…”
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    Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities by HORITA, Shoko, YAMADA, Hideomi, SHIMADZU, Mitsunobu, SEKI, George, FUJITA, Toshiro, INATOMI, Jun, MORIYAMA, Nobuo, SEKINE, Takashi, IGARASHI, Takashi, ENDO, Yoko, DASOUKI, Majed, EKIM, Mesiha, AL-GAZALI, Lihadh

    “…Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. However, little has been…”
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    Use of DNA microarray analysis in diagnosis of bacterial and fungal endophthalmitis by Sakai, Tsutomu, Kohzaki, Kenichi, Watanabe, Akira, Tsuneoka, Hiroshi, Shimadzu, Mitsunobu

    Published in Clinical ophthalmology (Auckland, N.Z.) (01-01-2012)
    “…To examine the utility of DNA microarray analysis for identifying causative microorganisms in endophthalmitis. Thirteen samples of vitreous fluid (VF) were…”
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    Detection of HER-2/neu (c-erb B-2) DNA amplification in primary breast carcinoma: Interobserver reproducibility and correlation with immunohistochemical HER-2 overexpression by TSUDA, Hitoshi, AKIYAMA, Futoshi, TERASAKI, Hiroshi, HASEGAWA, Tadashi, KUROSUMI, Masafumi, SHIMADZU, Mitsunobu, YAMAMORI, Shunji, SAKAMOTO, Goi

    Published in Cancer (15-12-2001)
    “…Fluorescent in situ hybridization (FISH) has been shown to be one of the most reliable methods with which to estimate the status of the HER-2/neu (or c-erb…”
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    Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis by Inatomi, Jun, Horita, Shoko, Braverman, Nancy, Sekine, Takashi, Yamada, Hideomi, Suzuki, Yoshiro, Kawahara, Katsumasa, Moriyama, Nobuo, Kudo, Akihiko, Kawakami, Hayato, Shimadzu, Mitsunobu, Endou, Hitoshi, Fujita, Toshiro, Seki, George, Igarashi, Takashi

    Published in Pflügers Archiv (01-07-2004)
    “…Permanent isolated proximal renal tubular acidosis (pRTA) with ocular abnormalities is a systemic disease with isolated pRTA, short stature and ocular…”
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    Corrigendum by Sakai T, Kohzaki K, Watanabe A, Tsuneoka H, Shimadzu M

    Published in Clinical ophthalmology (Auckland, N.Z.) (05-07-2012)
    “…321-326. The following sentence on page 322 was incorrect in the published paper:"This study was performed in accordance with the Helsinki Declaration of 1975…”
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    Development of multi-drug resistant mutants of clinical isolates of Pseudomonas aeruginosa after exposure to fluoroquinolone by Hasegawa, M, Kobayashi, I, Saika, T, Shimadzu, M, Nishida, M

    Published in Kansenshōgaku zasshi (01-02-1996)
    “…Eight multi-drug resistant mutants (4.94%) were found in 162 clinical isolates of P. aeruginosa after exposure to norfloxacin at different concentrations (1/4,…”
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    A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR by KUBOTA, T, NONOYAMA, S, TONOKI, H, MASUNO, M, IMAIZUMI, K, KOJIMA, M, WAKUI, K, SHIMADZU, M, FUKUSHIMA, Y

    Published in Human genetics (01-01-1999)
    “…The pattern of X-chromosome inactivation in females is currently evaluated by assays of differential methylation in the genes between the active and the…”
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    Neutropenia in patient with X-linked hyper-IgM syndrome by Iwata, M, Nunoi, H, Nonoyama, S, Shimadzu, M, Higuchi, S, Yanabe, Y, Migita, M, Adachi, N, Matsuda, I

    Published in Rinshō ketsueki (01-10-1995)
    “…The X-linked form of hyper-IgM syndrome (HIGM1) is a rare disorder characterized by the inability of B cells to undergo isotype switch by a deficiency of CD40…”
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    Quality control and monitoring for the isolation process of mesenchymal stem cells and their differentiation into osteoblasts by Kawauchi, Satoshi, Terasaki, Hiroshi, Katano, Masayoshi, Murase, Junko, Masuda, Yoshiko, Tamura, Tomoaki, Shimadzu, Mitsunobu

    Published in Genetic testing and molecular biomarkers (01-04-2010)
    “…We developed a method of quality control and monitoring for the isolation of mesenchymal stem cells (MSCs) from bone marrow and their differentiation into…”
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    Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG by Imai, Kohsuke, Shimadzu, Mitsunobu, Kubota, Takeo, Morio, Tomohiro, Matsunaga, Takeshi, Park, Young-Dong, Yoshioka, Akira, Nonoyama, Shigeaki

    Published in Biochimica et biophysica acta (01-03-2006)
    “…Hyper-IgM syndrome type 1 (HIGM1) is a primary immunodeficiency characterized by recurrent bacterial and opportunistic infections, associated with normal or…”
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