OHNO Kousaku | Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Med

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著作論文

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
Accumulation of cholesterol and G_ ganglioside in cells cultured in the presence of progesterone:an implication for the basic defect in Niemann-Pick disease typc C
Structural basis of the GM2 gangliosidosis B variant
Progressive neuronal loss in the ventral posterior lateral and medial nuclei of thalamus in Niemann-Pick disease type C mouse brain
Isolation of NPC1-Deficient Chinese Hamster Ovary Cell Mutants by Gene Trap Mutagenesis^1
Disappearance of frontal N30 component of median nerve stimulated SSEPs in two young children with abnormal striatal lesions
Cholinergic Regulation of Orexin/Hypocretin Neurons Through M_3 Muscarinic Receptor in Mice
Molecular and structural studies of the GM2 gangliosidosis O variant
Infantile neuronal ceroid lipofuscinosis : The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency
Protective Effect of Neurotropin Against Lipopolysaccharide-Induced Hypotension and Lethality Linked to Suppression of Inducible Nitric Oxide Synthase Induction
Cellular senescence of angiofibroma stroma cells from patients with tuberous sclerosis
Synaptotagmin I hypothalamic knockdown prevents amygdaloid seizure-induced damage of hippocampal neurons but not of entorhinal neurons
Antisense in vivo knockdown of synaptotagmin I and synapsin I by HVJ-liposome mediated gene transfer modulates ischemic injury of hippocampus in opposing ways
Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia
A Japanese case of infantile sialic acid storage disease
Immunohistochemical expression of fibroblast growth factor (FGF)-2 in epilepsy-associated malformations of cortical development (MCDs)
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
Apoptosis Involved in Density-dependent Regulation of Rat Fibroblastic 3Y1 CellCulture
Perspective of Child Neurology in Japan
Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia
Increased expression of β-hexosaminidase α chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I
MOLECULAR EPIDEMIOLOGY OF TUBEROUS SCLEROSIS
Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts

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