Nishino Ichizo | Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog

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概要

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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)
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
OJ-120 Clinical features of cardiac involvement in 51 patients with genetically-confirmed Danon disease(Cardiomyopathy, basic / clinical(02)(M),Oral Presentation (Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47
Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest
Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy
Novel Mutations in the Gene Encoding Acid .ALPHA.-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence
Myotonic dystrophy type 2 is rare in the Japanese population
A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology
Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy.

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