Ohno K | Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit

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概要

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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
Increased levels of GM_2 ganglioside in fibroblasts from a patient with juvenile Niemann - Pick disease type C
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin : A new syndrome?
Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells
Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients
Structural basis of the GM2 gangliosidosis B variant
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
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
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome
Associated factors in neonatal hypoglycemic brain injury
Late-onset, unusual neurological symptoms in children with mycoplasma infection
Acute encephalitis with refractory, repetitive partial seizures (AERRPS)
Transient encephalopathy with reversible white matter lesions : A case report
Laminar cortical necrosis in adrenal crisis : Sequential changes on MRI
Congenital ocular motor apraxia : Clinical and neuroradiological findings, and long-term intellectual prognosis
A patient with simplified gyral pattern followed by progressive brain atrophy
Forced mouth opening reaction : A primitive reflex released from cortical inhibition
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
Permanent Cardiac Pacing Following Surgery for Acquired Valvular Disease
Pontine hypoplasia in a child with sensorineural deafiness
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
MOLECULAR EPIDEMIOLOGY OF TUBEROUS SCLEROSIS
Altered Sensitivities to Potential Inhibitors of Cholesterol Biosynthesis in Niemann-Pick Type C Fibroblasts
Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy

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