Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma von IGARASHI, Takashi, INATOMI, Jun, NAKAMURA, Hajime, ENDOU, Hitoshi, SEKINE, Takashi, SEKI, George, SHIMADZU, Mitsunobu, TOZAWA, Fumiko, TAKESHIMA, Yasuhiro, TAKUMI, Toru, TAKAHASHI, Toshikazu, YOSHIKAWA, Norishige

Volltext

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

Volltext

Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia von 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

Volltext

Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia von 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

Volltext

Estimation of plasma and saliva levels of coenzyme Q10 and influence of oral supplementation von Sekine, K., Ota, N., Nishii, M., Uetake, T., Shimadzu, M.

Volltext

Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities von 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

Volltext

Comparison of gyrA and parC mutations and resistance levels among fluoroquinolone-resistant isolates and laboratory-derived mutants of oral streptococci von Kaneko, Akihiro, Sasaki, Jiro, Shimadzu, Mitsunobu, Kanayama, Akiko, Saika, Takeshi, Kobayashi, Intetsu

Volltext

Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities von Igarashi, Takashi, Inatomi, Jun, Sekine, Takashi, Cha, Seok Ho, Kanai, Yoshikatsu, Kunimi, Motoei, Tsukamoto, Kazuhisa, Satoh, Hiroaki, Shimadzu, Mitsunobu, Tozawa, Fumiko, Mori, Tetsuo, Shiobara, Masaaki, Seki, George, Endou, Hitoshi

Volltext

Use of DNA microarray analysis in diagnosis of bacterial and fungal endophthalmitis von Sakai, Tsutomu, Kohzaki, Kenichi, Watanabe, Akira, Tsuneoka, Hiroshi, Shimadzu, Mitsunobu

Volltext

Detection of HER-2/neu (c-erb B-2) DNA amplification in primary breast carcinoma: Interobserver reproducibility and correlation with immunohistochemical HER-2 overexpression von TSUDA, Hitoshi, AKIYAMA, Futoshi, TERASAKI, Hiroshi, HASEGAWA, Tadashi, KUROSUMI, Masafumi, SHIMADZU, Mitsunobu, YAMAMORI, Shunji, SAKAMOTO, Goi

Volltext

Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis von 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

Volltext

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR von KUBOTA, T, NONOYAMA, S, TONOKI, H, MASUNO, M, IMAIZUMI, K, KOJIMA, M, WAKUI, K, SHIMADZU, M, FUKUSHIMA, Y

Volltext

Corrigendum von Sakai T, Kohzaki K, Watanabe A, Tsuneoka H, Shimadzu M

Volltext

Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine von Suzuki, Masashi, Van Paesschen, Wim, Stalmans, Ingeborg, Horita, Shoko, Yamada, Hideomi, Bergmans, Bruno A, Legius, Eric, Riant, Florence, De Jonghe, Peter, Li, Yuehong, Sekine, Takashi, Igarashi, Takashi, Fujimoto, Ichiro, Mikoshiba, Katsuhiko, Shimadzu, Mitsunobu, Shiohara, Masaaki, Braverman, Nancy, Al-Gazali, Lihadh, Fujita, Toshiro, Seki, George

Volltext

Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations von Furukawa, Yoshiaki, Kish, Stephen J., Bebin, E. Martina, Jacobson, Richard D., Fryburg, Julie S., Wilson, Willam G., Shimadzu, Mitsunobu, Hyland, Keith, Trugman, Joel M.

Volltext

Quality control and monitoring for the isolation process of mesenchymal stem cells and their differentiation into osteoblasts von Kawauchi, Satoshi, Terasaki, Hiroshi, Katano, Masayoshi, Murase, Junko, Masuda, Yoshiko, Tamura, Tomoaki, Shimadzu, Mitsunobu

Volltext

Female hyper IgM syndrome type 1 with a chromosomal translocation disrupting CD40LG von Imai, Kohsuke, Shimadzu, Mitsunobu, Kubota, Takeo, Morio, Tomohiro, Matsunaga, Takeshi, Park, Young-Dong, Yoshioka, Akira, Nonoyama, Shigeaki

Volltext

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease von Igarashi, Takashi, Inatomi, Jun, Ohara, Toshio, Kuwahara, Takashi, Shimadzu, Mitsunobu, Thakker, Rajesh V.

Volltext

Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene von Furukawa, Yoshiaki, Guttman, Mark, Sparagana, Steven P., Trugman, Joel M., Hyland, Keith, Wyatt, Philip, Lang, Anthony E., Rouleau, Guy A., Shimadzu, Mitsunobu, Kish, Stephen J.

Volltext

GTP-cyclohydrolase I gene mutations in hereditary progressive and dopa-responsive dystonia von Furukawa, Yoshiaki, Shimadzu, Mitsunobu, Rajput, Ali H., Shimuzu, Yumiko, Tagawa, Tetsuzo, Mori, Hideo, Yokochi, Masayuki, Narabayashi, Hirotaro, Hornykiewicz, Oleh, Mizuno, Yoshikuni, Kish, Stephen J.

Volltext