Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon
Ouyang, Y, Takiyama, Y, Sakoe, K, Shimazaki, H, Ogawa, T, Nagano, S, Yamamoto, Y, Nakano, I
Published in Neurology (11.04.2006)
Published in Neurology (11.04.2006)
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16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
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.
Published in Journal of the neurological sciences (25.09.2006)
Published in Journal of the neurological sciences (25.09.2006)
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Journal Article
Identification of a SACS gene missense mutation in ARSACS
Ogawa, T, Takiyama, Y, Sakoe, K, Mori, K, Namekawa, M, Shimazaki, H, Nakano, I, Nishizawa, M
Published in Neurology (13.01.2004)
Published in Neurology (13.01.2004)
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Novel SACS mutation in a Belgian family with sacsin-related ataxia
Ouyang, Y, Segers, K, Bouquiaux, O, Wang, F.C, Janin, N, Andris, C, Shimazaki, H, Sakoe, K, Nakano, I, Takiyama, Y
Published in Journal of the neurological sciences (15.01.2008)
Published in Journal of the neurological sciences (15.01.2008)
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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations
Shimazaki, H, Takiyama, Y, Sakoe, K, Ikeguchi, K, Niijima, K, Kaneko, J, Namekawa, M, Ogawa, T, Date, H, Tsuji, S, Nakano, I, Nishizawa, M
Published in Neurology (27.08.2002)
Published in Neurology (27.08.2002)
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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 Intragenic CGG/GGG Polymorphism on the Intergenerational Instability
Takiyama, Y., Sakoe, K., Soutome, M., Namekawa, M., Ogawa, T., Nakano, I., Igarashi, S., Oyake, M., Tanaka, H., Tsuji, S., Nishizawa, M.
Published in Human molecular genetics (01.07.1997)
Published in Human molecular genetics (01.07.1997)
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A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity
Namekawa, M., Takiyama, Y., Sakoe, K., Nagaki, H., Shimazaki, H., Yoshimura, M., Ikeguchi, K., Nakano, I., Nishizawa, M.
Published in Acta neurologica Scandinavica (01.12.2002)
Published in Acta neurologica Scandinavica (01.12.2002)
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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-->3 sialyltransferase in human hematopoietic cell line HL-60 during differentiation
Nakamura, M, Tsunoda, A, Sakoe, K, Gu, J, Nishikawa, A, Taniguchi, N, Saito, M
Published in The Journal of biological chemistry (25.11.1992)
Published in The Journal of biological chemistry (25.11.1992)
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Biosynthesis of the So-Called "a" and "Asialo" Pathway Glycosphingolipids Is Differentially Regulated in Murine Myelogenous Leukemia NFS60 Cells
Nakamura, M., Sakai, T., Furukawa, Y., Kitagawa, S., Sakoe, K., Tsunoda, A.
Published in Biochemical and biophysical research communications (26.12.1995)
Published in Biochemical and biophysical research communications (26.12.1995)
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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 in COS-1 Cells
Nakamura, M., Tsunoda, A., Sakoe, K., Saito, M.
Published in Biochemical and biophysical research communications (30.12.1993)
Published in Biochemical and biophysical research communications (30.12.1993)
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Journal Article
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease
Namekawa, Michito, Takiyama, Yoshihisa, Aoki, Yoko, Takayashiki, Norio, Sakoe, Kumi, Shimazaki, Haruo, Taguchi, Tomohiro, Tanaka, Yasufumi, Nishizawa, Masatoyo, Saito, Ken, Matsubara, Yoichi, Nakano, Imaharu
Published in Annals of neurology (01.12.2002)
Published in Annals of neurology (01.12.2002)
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Journal of the Neurological Sciences
Ouyang, Y, SEGERS, Karin, BOUQUIAUX, Olivier, WANG, François-Charles, JANIN, Nicolas, ANDRIS, Cécile, Shimazaki, H, Sakoe, K, Nakano, I, Takiyama, Y
Published in Journal of the neurological sciences (2008)
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Published in Journal of the neurological sciences (2008)
Journal Article
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 CAG Repeat Diseases
Takiyama, Yoshihisa, Sakoe, Kumi, Amaike, Miho, Soutome, Michiyo, Ogawa, Tomoko, Nakano, Imaharu, Nishizawa, Masatoyo
Published in Human molecular genetics (01.03.1999)
Published in Human molecular genetics (01.03.1999)
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A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study
Namekawa, Michito, Takiyama, Yoshihisa, Sakoe, Kumi, Shimazaki, Haruo, Amaike, Miho, Niijima, Kenji, Nakano, Imaharu, Nishizawa, Masatoyo
Published in Journal of the neurological sciences (15.03.2001)
Published in Journal of the neurological sciences (15.03.2001)
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Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families
Shimazaki, Haruo, Takiyama, Yoshihisa, Sakoe, Kumi, Amaike, Miho, Nagaki, Hiromi, Namekawa, Michito, Sasaki, Hidenao, Nakano, Imaharu, Nishizawa, Masatoyo
Published in Journal of the neurological sciences (01.04.2001)
Published in Journal of the neurological sciences (01.04.2001)
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