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Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit | 論文
- Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Epilepsy in Peroxisomal Diseases
- Underlying neurologic disorders and recurrence rates of status epilepticus in childhood
- Genetic Heterogeneity of Niemann-Pick Disease Type C
- 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
- 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
- Disappearance of frontal N30 component of median nerve stimulated SSEPs in two young children with abnormal striatal lesions
- Intracraninal calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report
- Sensorineural deafness in siblings with adenosine deaminase deficiency
- Molecular and structural studies of the GM2 gangliosidosis O variant
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