A phenotype without spasticity in sacsin-related ataxia von SHIMAZAKI, H, TAKIYAMA, Y, SAKOE, K, ANDO, Y, NAKANO, I

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Sacsin-related ataxia (ARSACS) : Expanding the genotype upstream from the gigantic exon von OUYANG, Y, TAKIYAMA, Y, SAKOE, K, SHIMAZAKI, H, OGAWA, T, NAGANO, S, YAMAMOTO, Y, NAKANO, I

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16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study von Ouyang, Y., Sakoe, K., Shimazaki, H., Namekawa, M., Ogawa, T., Ando, Y., Kawakami, T., Kaneko, J., Hasegawa, Y., Yoshizawa, K., Amino, T., Ishikawa, K., Mizusawa, H., Nakano, I., Takiyama, Y.

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Identification of a SACS gene missense mutation in ARSACS von OGAWA, T, TAKIYAMA, Y, SAKOE, K, MORI, K, NAMEKAWA, M, SHIMAZAKI, H, NAKANO, I, NISHIZAWA, M

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Novel SACS mutation in a Belgian family with sacsin-related ataxia von Ouyang, Y, Segers, K, Bouquiaux, O, Wang, F.C, Janin, N, Andris, C, Shimazaki, H, Sakoe, K, Nakano, I, Takiyama, Y

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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations von SHIMAZAKI, H, TAKIYAMA, Y, NAKANO, I, NISHIZAWA, M, SAKOE, K, IKEGUCHI, K, NIIJIMA, K, KANEKO, J, NAMEKAWA, M, OGAWA, T, DATE, H, TSUJI, S

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Single Sperm Analysis of the CAG Repeats in the Gene for Machado-Joseph Disease (MJD1): Evidence for Non-Mendelian Transmission of the MJD1 Gene and for the Effect of the Intrageni... von Takiyama, Y., Sakoe, K., Soutome, M., Namekawa, M., Ogawa, T., Nakano, I., Igarashi, S., Oyake, M., Tanaka, H., Tsuji, S., Nishizawa, M.

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A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies von KIRITO, Keita, SAKOE, Kumi, SHINODA, Daisuke, TAKIYAMA, Yoshihisa, KAUSHANSKY, Kenneth, KOMAISU, Norio

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The role of cellular transcription factor E2F in the regulation of cdc2 mRNA expression and cell cycle control of human hematopoietic cells von Furukawa, Y, Terui, Y, Sakoe, K, Ohta, M, Saito, M

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Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease von Namekawa, Michito, Takiyama, Yoshihisa, Aoki, Yoko, Takayashiki, Norio, Sakoe, Kumi, Shimazaki, Haruo, Taguchi, Tomohiro, Tanaka, Yasufumi, Nishizawa, Masatoyo, Saito, Ken, Matsubara, Yoichi, Nakano, Imaharu

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Total metabolic flow of glycosphingolipid biosynthesis is regulated by UDP-GlcNAc:lactosylceramide beta 1-->3N-acetylglucosaminyltransferase and CMP-NeuAc:lactosylceramide alpha 2-... von NAKAMURA, M, TSUNODA, A, SAKOE, K, GU, J, NISHIKAWA, A, TANIGUCHI, N, SAITO, M

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Biosynthesis of the So-Called "a" and "Asialo" Pathway Glycosphingolipids Is Differentially Regulated in Murine Myelogenous Leukemia NFS60 Cells von Nakamura, M., Sakai, T., Furukawa, Y., Kitagawa, S., Sakoe, K., Tsunoda, A.

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A Monoclonal Antibody Reactive with Terminal Lactotriaosyl Residue-Containing Oligosaccharides and Its Application to Characterizing Cell Surface Expression of the Glyco-epitopes i... von Nakamura, M., Tsunoda, A., Sakoe, K., Saito, M.

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Journal of the Neurological Sciences von Ouyang, Y, SEGERS, Karin, BOUQUIAUX, Olivier, WANG, François-Charles, JANIN, Nicolas, ANDRIS, Cécile, Shimazaki, H, Sakoe, K, Nakano, I, Takiyama, Y

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Machado-Joseph disease : Cerebellar ataxia and autonomic dysfunction in a patient with the shortest known expanded allele (56 CAG repeat units) of the MJD1 gene von TAKIYAMA, Y, SAKOE, K, NAKANO, I, NISHIZAWA, M

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A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study von Namekawa, Michito, Takiyama, Yoshihisa, Sakoe, Kumi, Shimazaki, Haruo, Amaike, Miho, Niijima, Kenji, Nakano, Imaharu, Nishizawa, Masatoyo

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Single Sperm Analysis of the CAG Repeats in the Gene for Dentatorubral-Pallidoluysian Atrophy (DRPLA): The Instability of the CAG Repeats in the DRPLA Gene is Prominent Among the C... von Takiyama, Yoshihisa, Sakoe, Kumi, Amaike, Miho, Soutome, Michiyo, Ogawa, Tomoko, Nakano, Imaharu, Nishizawa, Masatoyo

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Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families von Shimazaki, Haruo, Takiyama, Yoshihisa, Sakoe, Kumi, Amaike, Miho, Nagaki, Hiromi, Namekawa, Michito, Sasaki, Hidenao, Nakano, Imaharu, Nishizawa, Masatoyo

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A case of McLeod syndrome with unusually severe myopathy von Kawakami, Tadataka, Takiyama, Yoshihisa, Sakoe, Kumi, Ogawa, Tomoko, Yoshioka, Toru, Nishizawa, Masatoyo, Reid, Marion E., Kobayashi, Osamu, Nonaka, Ikuya, Nakano, Imaharu

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A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene von Takiyama, Yoshihisa, Sakoe, Kumi, Namekawa, Michito, Soutome, Michiyo, Esumi, Eisaku, Ogawa, Tomoko, Ishikawa, Kin-ya, Mizusawa, Hidehiro, Nakano, Imaharu, Nishizawa, Masatoyo

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