Ohno Kousaku | Department Of Pediatric Neurology School Of Life Sciences Tottori University Faculty Of Medicine

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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
Underlying neurologic disorders and recurrence rates of status epilepticus in childhood
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
Lower brainstem dysfunction in an infant with persistent primitive trigeminal artery
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
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
Disappearance of frontal N30 component of median nerve stimulated SSEPs in two young children with abnormal striatal lesions
A Cell Line Derived from Sphingomyelinosis Mouse Shows Alterations in Intracellular Cholesterol Metabolism Similar to Those in Type C Niemann-Pick Disease
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)
Bilateral middle cerebral artery infarctions following mild varicella infection : A case report
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
Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
Delayed neuropsychiatric syndrome in a child following carbon monoxide poisoning
Acute encephalitis with refractory, repetitive partial seizures : Case reports of this unusual post-encephalitic epilepsy
Forced mouth opening reaction : A primitive reflex released from cortical inhibition
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
MOLECULAR EPIDEMIOLOGY OF TUBEROUS SCLEROSIS
Altered Sensitivities to Potential Inhibitors of Cholesterol Biosynthesis in Niemann-Pick Type C Fibroblasts

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