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Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori University | 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?
- 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
- Intracraninal calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report
- Sensorineural deafness in siblings with adenosine deaminase deficiency
- Associated factors in neonatal hypoglycemic brain injury
- Late-onset, unusual neurological symptoms in children with mycoplasma infection
- 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