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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

Biological and Pharmaceutical Bulletin, 2015/06/01, Vol.38(6), pp.844-851

2015

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The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

Brain & development (Tokyo. 1979), 2013-04, Vol.35 (4), p.317-322

2013

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Extensive Transduction and Enhanced Spread of a Modified AAV2 Capsid in the Non-human Primate CNS

Molecular therapy, 2018-10, Vol.26 (10), p.2418-2430

2018

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Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C

Journal of lipid research, 2019-12, Vol.60 (12), p.2074-2081

2019

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pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases

Angewandte Chemie (International ed.), 2015-09, Vol.54 (40), p.11696-11700

International ed. in English, 2015

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Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C

International journal of molecular sciences, 2019-10, Vol.20 (20), p.5018

2019

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Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

PloS one, 2016-05, Vol.11 (5), p.e0154827-e0154827

2016

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Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report

Brain & development (Tokyo. 1979), 2018-08, Vol.40 (7), p.576-581

2018

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Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

Biochemical and biophysical research communications, 2008-03, Vol.367 (3), p.616-622

2008

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Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Annals of clinical and translational neurology, 2016-03, Vol.3 (3), p.200-215

2016

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A Bicyclic 1-Deoxygalactonojirimycin Derivative as a Novel Pharmacological Chaperone for GM1 Gangliosidosis

Molecular therapy, 2013-03, Vol.21 (3), p.526-532

2013

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A Novel Model of Intravital Platelet Imaging Using CD41-ZsGreen1 Transgenic Rats

PloS one, 2016-04, Vol.11 (4), p.e0154661-e0154661

2016

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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

International journal of molecular sciences, 2019-03, Vol.20 (5), p.1152

2019

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A Study on the Incidence and Comorbidities of Autism Spectrum Disorders Accompanied by Intellectual Disabilities in Yonago City, Japan

YONAGO ACTA MEDICA, 2019, Vol.62 (1), p.8-13

2019

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Severe demyelination in a patient with a late infantile form of Niemann‐Pick disease type C

Neuropathology, 2017-10, Vol.37 (5), p.426-430

2017

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Kinetics and MR-Based Monitoring of AAV9 Vector Delivery into Cerebrospinal Fluid of Nonhuman Primates

Molecular therapy. Methods & clinical development, 2019-06, Vol.13, p.47-54

2019

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Early predictors of status epilepticus-associated mortality and morbidity in children

Brain & development (Tokyo. 1979), 2015-05, Vol.37 (5), p.478-486

2015

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Orexin neuronal circuitry: Role in the regulation of sleep and wakefulness

Frontiers in neuroendocrinology, 2008-01, Vol.29 (1), p.70-87

2008

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Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

BMC neurology, 2018-08, Vol.18 (1), p.117-117, Article 117

2018

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Perspective of Child Neurology in Japan

Brain & development (Tokyo. 1979), 2009-08, Vol.31 (7), p.480-484

Ohno, Kousaku

2009

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Distinction between the literal and intended meanings of sentences: A functional magnetic resonance imaging study of metaphor and sarcasm

Cortex, 2012-05, Vol.48 (5), p.563-583

2012

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Prevention of occlusive arterial thrombus formation by a single loading dose of prasugrel suppresses neointimal hyperplasia in mice

Thrombosis research, 2015-12, Vol.136 (6), p.1245-1251

2015

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Cholinergic Regulation of Orexin/Hypocretin Neurons Through M3 Muscarinic Receptor in Mice

Journal of Pharmacological Sciences, 2008, Vol.106(3), pp.485-491

2008

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Benign and malignant tumors in Down syndrome: Analysis of the 1514 autopsied cases in Japan

Pediatrics international, 2011-02, Vol.53 (1), p.72-77

2011

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Targeted delivery of pharmacological chaperones for Gaucher disease to macrophages by a mannosylated cyclodextrin carrier

Organic & biomolecular chemistry, 2014-04, Vol.12 (14), p.2289-2301

2014

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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

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

Extensive Transduction and Enhanced Spread of a Modified AAV2 Capsid in the Non-human Primate CNS

Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C

pH-Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases

Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

A Bicyclic 1-Deoxygalactonojirimycin Derivative as a Novel Pharmacological Chaperone for GM1 Gangliosidosis

A Novel Model of Intravital Platelet Imaging Using CD41-ZsGreen1 Transgenic Rats

In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C

A Study on the Incidence and Comorbidities of Autism Spectrum Disorders Accompanied by Intellectual Disabilities in Yonago City, Japan

Severe demyelination in a patient with a late infantile form of Niemann‐Pick disease type C

Kinetics and MR-Based Monitoring of AAV9 Vector Delivery into Cerebrospinal Fluid of Nonhuman Primates

Early predictors of status epilepticus-associated mortality and morbidity in children

Orexin neuronal circuitry: Role in the regulation of sleep and wakefulness

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report

Perspective of Child Neurology in Japan

Distinction between the literal and intended meanings of sentences: A functional magnetic resonance imaging study of metaphor and sarcasm

Prevention of occlusive arterial thrombus formation by a single loading dose of prasugrel suppresses neointimal hyperplasia in mice

Cholinergic Regulation of Orexin/Hypocretin Neurons Through M3 Muscarinic Receptor in Mice

Benign and malignant tumors in Down syndrome: Analysis of the 1514 autopsied cases in Japan

Targeted delivery of pharmacological chaperones for Gaucher disease to macrophages by a mannosylated cyclodextrin carrier

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