The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice von Luan, Zhuo, Li, Linjing, Higaki, Katsumi, Nanba, Eiji, Suzuki, Yoshiyuki, Ohno, Kousaku

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Extensive Transduction and Enhanced Spread of a Modified AAV2 Capsid in the Non-human Primate CNS von Naidoo, Jerusha, Stanek, Lisa M., Ohno, Kousaku, Trewman, Savanah, Samaranch, Lluis, Hadaczek, Piotr, O’Riordan, Catherine, Sullivan, Jennifer, San Sebastian, Waldy, Bringas, John R., Snieckus, Christopher, Mahmoodi, Amin, Mahmoodi, Amir, Forsayeth, John, Bankiewicz, Krystof S., Shihabuddin, Lamya S.

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Characterization of early onset neurofibromatosis type 2 von Matsuo, Muneaki, Ohno, Kousaku, Ohtsuka, Fujio

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Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C von Maekawa, Masamitsu, Jinnoh, Isamu, Narita, Aya, Iida, Takashi, Saigusa, Daisuke, Iwahori, Anna, Nittono, Hiroshi, Okuyama, Torayuki, Eto, Yoshikatsu, Ohno, Kousaku, Clayton, Peter T., Yamaguchi, Hiroaki, Mano, Nariyasu

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pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases von Mena-Barragán, Teresa, Narita, Aya, Matias, Dino, Tiscornia, Gustavo, Nanba, Eiji, Ohno, Kousaku, Suzuki, Yoshiyuki, Higaki, Katsumi, Garcia Fernández, José Manuel, Ortiz Mellet, Carmen

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Efficacy of 2-Hydroxypropyl-β-cyclodextrin in Niemann–Pick Disease Type C Model Mice and Its Pharmacokinetic Analysis in a Patient with the Disease von Tanaka, Yuta, Yamada, Yusei, Ishitsuka, Yoichi, Matsuo, Muneaki, Shiraishi, Koki, Wada, Koki, Uchio, Yushiro, Kondo, Yuki, Takeo, Toru, Nakagata, Naomi, Higashi, Taishi, Motoyama, Keiichi, Arima, Hidetoshi, Mochinaga, Sakiko, Higaki, Katsumi, Ohno, Kousaku, Irie, Tetsumi

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Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report von Hayashida, Takuya, Saito, Yoshiaki, Ishii, Atsushi, Hirose, Shinichi, Hiraiwa, Rika, Maegaki, Yoshihiro, Ohno, Kousaku

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Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C von Maekawa, Masamitsu, Jinnoh, Isamu, Matsumoto, Yotaro, Narita, Aya, Mashima, Ryuichi, Takahashi, Hidenori, Iwahori, Anna, Saigusa, Daisuke, Fujii, Kumiko, Abe, Ai, Higaki, Katsumi, Yamauchi, Shosei, Ozeki, Yuji, Shimoda, Kazutaka, Tomioka, Yoshihisa, Okuyama, Torayuki, Eto, Yoshikatsu, Ohno, Kousaku, T Clayton, Peter, Yamaguchi, Hiroaki, Mano, Nariyasu

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Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families von Okuda, Hiroko, Noguchi, Atsuko, Kobayashi, Hatasu, Kondo, Daiki, Harada, Kouji H, Youssefian, Shohab, Shioi, Hirotomo, Kabata, Risako, Domon, Yuki, Kubota, Kazufumi, Kitano, Yutaka, Takayama, Yasunori, Hitomi, Toshiaki, Ohno, Kousaku, Saito, Yoshiaki, Asano, Takeshi, Tominaga, Makoto, Takahashi, Tsutomu, Koizumi, Akio

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Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study von Narita, Aya, Shirai, Kentarou, Itamura, Shinji, Matsuda, Atsue, Ishihara, Akiko, Matsushita, Kumi, Fukuda, Chisako, Kubota, Norika, Takayama, Rumiko, Shigematsu, Hideo, Hayashi, Anri, Kumada, Tomohiro, Yuge, Kotaro, Watanabe, Yoriko, Kosugi, Saori, Nishida, Hiroshi, Kimura, Yukiko, Endo, Yusuke, Higaki, Katsumi, Nanba, Eiji, Nishimura, Yoko, Tamasaki, Akiko, Togawa, Masami, Saito, Yoshiaki, Maegaki, Yoshihiro, Ohno, Kousaku, Suzuki, Yoshiyuki

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Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis von Takamura, Ayumi, Higaki, Katsumi, Kajimaki, Kenya, Otsuka, Susumu, Ninomiya, Haruaki, Matsuda, Junichiro, Ohno, Kousaku, Suzuki, Yoshiyuki, Nanba, Eiji

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In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C von Yasmin, Nushrat, Ishitsuka, Yoichi, Fukaura, Madoka, Yamada, Yusei, Nakahara, Shuichi, Ishii, Akira, Kondo, Yuki, Takeo, Toru, Nakagata, Naomi, Motoyama, Keiichi, Higashi, Taishi, Okada, Yasuyo, Nishikawa, Junichi, Ichikawa, Atsushi, Iohara, Daisuke, Hirayama, Fumitoshi, Higaki, Katsumi, Ohno, Kousaku, Matsuo, Muneaki, Irie, Tetsumi

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A Novel Model of Intravital Platelet Imaging Using CD41-ZsGreen1 Transgenic Rats von Mizuno, Makoto, Tomizawa, Atsuyuki, Ohno, Kousaku, Jakubowski, Joseph A, Sugidachi, Atsuhiro

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Severe demyelination in a patient with a late infantile form of Niemann‐Pick disease type C von Kodachi, Tsuyoshi, Matsumoto, Shizuko, Mizuguchi, Masashi, Osaka, Hitoshi, Kanai, Nobuyuki, Nanba, Eiji, Ohno, Kousaku, Yamagata, Takanori

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A Study on the Incidence and Comorbidities of Autism Spectrum Disorders Accompanied by Intellectual Disabilities in Yonago City, Japan von Nomura, Kazuyo, Yamaguchi, Mihoko, Yokoyama, Madoka, Shiota, Madoka, Ohno, Kousaku, Maegaki, Yoshihiro

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A Bicyclic 1-Deoxygalactonojirimycin Derivative as a Novel Pharmacological Chaperone for GM1 Gangliosidosis von Takai, Tomoko, Higaki, Katsumi, Aguilar-Moncayo, Matilde, Mena-Barragán, Teresa, Hirano, Yuki, Yura, Kei, Yu, Liang, Ninomiya, Haruaki, García-Moreno, M. Isabel, Sakakibara, Yasubumi, Ohno, Kousaku, Nanba, Eiji, Ortiz Mellet, Carmen, García Fernández, José M., Suzuki, Yoshiyuki

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Kinetics and MR-Based Monitoring of AAV9 Vector Delivery into Cerebrospinal Fluid of Nonhuman Primates von Ohno, Kousaku, Samaranch, Lluis, Hadaczek, Piotr, Bringas, John R., Allen, Philip C., Sudhakar, Vivek, Stockinger, Diane E., Snieckus, Christopher, Campagna, Michael V., San Sebastian, Waldy, Naidoo, Jerusha, Chen, Haifeng, Forsayeth, John, Salegio, Ernesto A., Hwa, Granger G.C., Bankiewicz, Krystof S.

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Early predictors of status epilepticus-associated mortality and morbidity in children von Maegaki, Yoshihiro, Kurozawa, Youichi, Tamasaki, Akiko, Togawa, Masami, Tamura, Akiko, Hirao, Masato, Nagao, Akihisa, Kouda, Takayuki, Okada, Takayoshi, Hayashibara, Hiroshi, Harada, Yuichiro, Urushibara, Makoto, Sugiura, Chitose, Sejima, Hitoshi, Tanaka, Yuji, Matsuda-Ohtahara, Hiroko, Kasai, Takeshi, Kishi, Kazuko, Kaji, Syunsaku, Toyoshima, Mitsuo, Kanzaki, Susumu, Ohno, Kousaku

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Orexin neuronal circuitry: Role in the regulation of sleep and wakefulness von Ohno, Kousaku, Sakurai, Takeshi

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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report von Kawazoe, Tomoya, Yamamoto, Toshiyuki, Narita, Aya, Ohno, Kousaku, Adachi, Kaori, Nanba, Eiji, Noguchi, Atsuko, Takahashi, Tsutomu, Maekawa, Masamitsu, Eto, Yoshikatsu, Ogawa, Masafumi, Murata, Miho, Takahashi, Yuji

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