INUI Koji | Department of Pediatrics, Osaka University Graduate School of Medicine

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著作論文

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2
Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
Molecular form and subcellular distribution of acid β-galactosidase in fibroblasts from patients with G_ gangliosidosis,Morquio B disease and galactosialidosis
Mutation analysis of Japanese patient with fucosidosis
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
Remission of progressive multifocal leukoencephalopathy following highly active antiretroviral therapy in a patient with HIV infection
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome
Gene therapy in Duchenne muscular dystrophy
Temporal slow waves and cerebrovascular diseases
Effects of sleep on pain-related somatosensory evoked potentials in humans
CORRELATION OF SUBCELLULAR LOCALIZATION OF DISEASE-SPECIFIC INCLUSIONS AND SPHINGOLIPID ACTIVATOR PROTEIN-1(SAP-1)IN SULFATIDE SULFATASE-DEFICIENT FIBROBLASTS
Localization of SAP-1 in fibroblasts of metachromatic leukodystrophy
Is temporal slow wave on EEG a useful diagnostic tool in vascular depression?
Early-onset facioscapulohumeral muscular dystrophy: two case reports
Face representation in the human primary somatosensory cortex

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