Characterization of SPATA5-related encephalopathy in early childhood
Kurata, H., Terashima, H., Nakashima, M., Okazaki, T., Matsumura, W., Ohno, K., Saito, Y., Maegaki, Y., Kubota, M., Nanba, E., Saitsu, H., Matsumoto, N., Kato, M.
Published in Clinical genetics (01.11.2016)
Published in Clinical genetics (01.11.2016)
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Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis
Aguilar-Moncayo, M, Takai, T, Higaki, K, Mena-Barragán, T, Hirano, Y, Yura, K, Li, L, Yu, Y, Ninomiya, H, García-Moreno, M I, Ishii, S, Sakakibara, Y, Ohno, K, Nanba, E, Ortiz Mellet, C, García Fernández, J M, Suzuki, Y
Published in Chemical communications (Cambridge, England) (04.07.2012)
Published in Chemical communications (Cambridge, England) (04.07.2012)
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Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations
Okazaki, T., Saito, Y., Hayashida, T., Akaboshi, S., Miyake, N., Matsumoto, N., Kasagi, N., Adachi, K., Shinohara, Y., Nanba, E., Maegaki, Y.
Published in Clinical genetics (01.10.2018)
Published in Clinical genetics (01.10.2018)
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P14.04 A REVIEW OF CORRELATION OF PHENOTYPE AND GENOTYPE IN VON HIPPEL-LINDAU DISEASE
Ishibashi, M., Watanabe, T., Adachi, K., Nanba, E.
Published in Neuro-oncology (Charlottesville, Va.) (01.09.2014)
Published in Neuro-oncology (Charlottesville, Va.) (01.09.2014)
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Conformationally-locked C-glycosides: tuning aglycone interactions for optimal chaperone behaviour in Gaucher fibroblasts
Navo, C. D., Corzana, F., Sanchez-Fernandez, E. M., Busto, J. H., Avenoza, A., Zurbano, M. M., Nanba, E., Higaki, K., Ortiz Mellet, C., Garcia Fernandez, J. M., Peregrina, J. M.
Published in Organic & biomolecular chemistry (01.01.2016)
Published in Organic & biomolecular chemistry (01.01.2016)
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Mutation at Cleavage Site of Insulin-Like Growth Factor Receptor in a Short-Stature Child Born with Intrauterine Growth Retardation
Kawashima, Yuki, Kanzaki, Susumu, Yang, Fan, Kinoshita, Tomoe, Hanaki, Keiichi, Nagaishi, Jun-ichi, Ohtsuka, Yoshihiko, Hisatome, Ichirou, Ninomoya, Haruaki, Nanba, Eiji, Fukushima, Toshiaki, Takahashi, Shin-Ichiro
Published in The journal of clinical endocrinology and metabolism (01.08.2005)
Published in The journal of clinical endocrinology and metabolism (01.08.2005)
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Transcriptional activation of the anchoring protein SAP97 by heat shock factor (HSF)-1 stabilizes K(v) 1.5 channels in HL-1 cells
Ting, Y K, Morikawa, K, Kurata, Y, Li, P, Bahrudin, U, Mizuta, E, Kato, M, Miake, J, Yamamoto, Y, Yoshida, A, Murata, M, Inoue, T, Nakai, A, Shiota, G, Higaki, K, Nanba, E, Ninomiya, H, Shirayoshi, Y, Hisatome, I
Published in British journal of pharmacology (01.04.2011)
Published in British journal of pharmacology (01.04.2011)
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Multiple subcutaneous hard nodules
Watanabe, T., Yoshida, Y., Adachi, K., Nanba, E., Yamamoto, O.
Published in Clinical and experimental dermatology (01.08.2010)
Published in Clinical and experimental dermatology (01.08.2010)
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Attenuation of ganglioside GM1 accumulation in the brain of GM1 gangliosidosis mice by neonatal intravenous gene transfer
TAKAURA, N, YAGI, T, MAEDA, M, NANBA, E, OSHIMA, A, SUZUKI, Y, YAMANO, T, TANAKA, A
Published in Gene therapy (01.08.2003)
Published in Gene therapy (01.08.2003)
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Transcriptional activation of the anchoring protein SAP97 by heat shock factor (HSF)‐1 stabilizes Kv1.5 channels in HL‐1 cells
Ting, YK, Morikawa, K, Kurata, Y, Li, P, Bahrudin, U, Mizuta, E, Kato, M, Miake, J, Yamamoto, Y, Yoshida, A, Murata, M, Inoue, T, Nakai, A, Shiota, G, Higaki, K, Nanba, E, Ninomiya, H, Shirayoshi, Y, Hisatome, I
Published in British journal of pharmacology (01.04.2011)
Published in British journal of pharmacology (01.04.2011)
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Early-onset, rapidly progressive familial tauopathy with R406W mutation
Saito, Y, Geyer, A, Sasaki, R, Kuzuhara, S, Nanba, E, Miyasaka, T, Suzuki, K, Murayama, S
Published in Neurology (12.03.2002)
Published in Neurology (12.03.2002)
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Pathological characterization of astrocytic hyaline inclusions in familial amyotrophic lateral sclerosis
Kato, S, Hayashi, H, Nakashima, K, Nanba, E, Kato, M, Hirano, A, Nakano, I, Asayama, K, Ohama, E
Published in The American journal of pathology (01.08.1997)
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Published in The American journal of pathology (01.08.1997)
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P277 Molecular basis of chaperone effect in lysosomal diseases
Suzuki, Y, Higaki, K, Nanba, E, Ohno, K, Sakakibara, Y, Ogawa, S, Iida, M
Published in European journal of paediatric neurology (2009)
Published in European journal of paediatric neurology (2009)
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Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism – Corrigendum
Marui, T., Funatogawa, I., Koishi, S., Yamamoto, K., Matsumoto, H., Hashimoto, O., Nanba, E., Nishida, H., Sugiyama, T., Kasai, K., Watanabe, K., Kano, Y., Kato, N.
Published in The international journal of neuropsychopharmacology (01.04.2009)
Published in The international journal of neuropsychopharmacology (01.04.2009)
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Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
YAMAMOTO, TOSHIYUKI, NINOMIYA, HARUAKI, MATSUMOTO, MICHIKA, OHTA, YASUTOSHI, NANBA, EIJI, TSUTSUMI, YUKIE, YAMAKAWA, KAZUHIRO, MILLAT, GILLES, VANIER, MARIE T, PENTCHEV, PETER G, OHNO, KOUSAKU
Published in Journal of medical genetics (01.09.2000)
Published in Journal of medical genetics (01.09.2000)
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LRRTM1 protein is located in the endoplasmic reticulum (ER) in mammalian cells
Francks, C, Maegawa, S, Laurén, J, Abrahams, B S, Velayos-Baeza, A, Medland, S E, Colella, S, Groszer, M, McAuley, E Z, Caffrey, T M, Timmusk, T, Pruunsild, P, Koppel, I, Lind, P A, Matsumoto-Itaba, N, Nicod, J, Xiong, L, Joober, R, Enard, W, Krinsky, B, Nanba, E, Richardson, A J, Riley, B P, Martin, N G, Strittmatter, S M, Möller, H-J, Rujescu, D, St Clair, D, Muglia, P, Roos, J L, Fisher, S E, Wade-Martins, R, Rouleau, G A, Stein, J F, Karayiorgou, M, Geschwind, D H, Ragoussis, J, Kendler, K S, Airaksinen, M S, Oshimura, M, DeLisi, L E, Monaco, A P
Published in Molecular psychiatry (01.12.2007)
Published in Molecular psychiatry (01.12.2007)
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Mitochondrial DNA deletion associated with the reduction of adenine nucleotides in human atrium and atrial fibrillation
Tsuboi, M., Hisatome, I., Morisaki, T., Tanaka, M., Tomikura, Y., Takeda, S., Shimoyama, M., Ohtahara, A., Ogino, K., Igawa, O., Shigemasa, C., Ohgi, S., Nanba, E.
Published in European journal of clinical investigation (01.06.2001)
Published in European journal of clinical investigation (01.06.2001)
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DEFECT 11 syndrome associated with agenesis of the corpus callosum
YAMAMOTO, TOSHIYUKI, AKABOSHI, SHINJIROU, NINOMIYA, HARUAKI, NANBA, EIJI
Published in Journal of medical genetics (01.02.2001)
Published in Journal of medical genetics (01.02.2001)
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