スポンサーリンク
Department Of Mental Retardation And Birth Defect Research National Institute Of Neuroscience Nation | 論文
- Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
- Serum and CSF levels of cytokines in acute encephalopathy following prolonged febrile seizures
- Low-dose carbamazepine therapy for benign infantile convulsions
- Serum cytokine concentrations of influenza-associated acute necrotizing encephalopathy
- Neuronal maturation and N-acetyl- _L-aspartic acid development in human fetal and child brains
- Dysferlinopathy associated with rigid spine syndrome
- Mutational Analysis of the WASP Gene in 2 Korean Families with Wiskott-Aldrich Syndrome
- Developmental changes in KCNQ2 and KCNQ3 expression in human brain : Possible contribution to the age-dependent etiology of benign familial neonatal convulsions
- Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
- Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
- Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
- A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
- A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy
- Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene
- Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
- A 2-year-old boy with hypoactivity of neonatal onset and profound developmental delay
- An 11-month-old girl with arrested psychomotor development and lactic acidosis
- Direct Evidence for Two Distinct Forms of the Flavoprotein Subunit of Human Mitochondrial Complex II (Succinate-Ubiquinone Reductase)
- Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts ; comparison with those of early myoclonic encephalopathy and West syndrome