スポンサーリンク
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology | 論文
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy(Molecular Cardiology)
- 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
- Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling
- Subcellular Localization of Fukutin and Fukutin-Related Protein in Muscle Cells
- Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle
- PJ-442 Fukutin Gene Mutations Cause Dilated Cardiomyopathy with Minimal Muscle Weakness(Cardiomyopathy, basic/clinical-6, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
- Interaction between Emerin and Nuclear Lamins
- Dysferlinopathy associated with rigid spine syndrome
- Distal myopathy with rimmed vacuoles in a case of opercular syndrome
- Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
- Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis
- Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
- Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation
- Early onset distal muscular dystrophy with normal dysferlin expression
- A case of congenital neuromuscular disease with uniform type 1 fibers
- A novel Sac I RFLP in the 3' untranslated region of the myotonin protein kinase gene
- Familial reducing body myopathy