スポンサーリンク
Department Of Ultrastructural Research National Institute Of Neuroscience National Center Of Neurolo | 論文
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
- A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I
- NS-4 Epileptic seizure in mice deficient in μ3B subunit of AP-3B complex
- Dysferlinopathy associated with rigid spine syndrome
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
- A case of Walker-Warburg syndrome
- Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
- The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy
- Progressive myoclonus epilepsy with unusual neuropathologic features
- A follow-up study of congenital non-progressive myopathies
- Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family
- Constitutive activation of neuronal Src causes aberrant dendritic morphogenesis in mouse cerebellar Purkinje cells
- The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders
- Mitochondrial Encephalomyopathy with Elderly Onset of Stroke-Like Episodes