Ono Kimiyo | Second Department Of Surgery Faculty Of Medicine Tottori University

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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?
Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients
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
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
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
Induction of Apoptosis of Rat Neonatal Cardiomyocytes by Chemical Ischemia and Reoxygenation: The Role of Phosphatidylserine
MOLECULAR EPIDEMIOLOGY OF TUBEROUS SCLEROSIS
Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy

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