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鳥取大学医学部附属脳幹性疾患研究施設 脳神経小児科 | 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
- 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
- Disappearance of frontal N30 component of median nerve stimulated SSEPs in two young children with abnormal striatal lesions
- 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
- Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
- Delayed neuropsychiatric syndrome in a child following carbon monoxide poisoning