Nishino Ichizo | Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology

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著作論文

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)
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
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
Familial reducing body myopathy
Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy
PE-312 Clinical and Molecular Analyses of Nuclear Envelopathy(Cardiomyopathy, basic/clinical-5, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy : Two sibling cases
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

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