Nonaka Ikuya | Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn

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著作論文

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
Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report
Distal myopathy with rimmed vacuoles in a case of opercular syndrome
A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2
Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers(MERRF):a single-photon emission computed tomographic(SPECT)and electrophysiological study
Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome
Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
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
A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
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
Early onset distal muscular dystrophy with normal dysferlin expression
A case of congenital neuromuscular disease with uniform type 1 fibers
Familial reducing body myopathy
Leigh syndrome caused by mitochondrial DNA G13513A mutation : frequency and clinical features in Japan
The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy
Severe infantile myotubular myopathy with complete atrioventricular block
A follow-up study of congenital non-progressive myopathies
Delayed gyration with pontocerebellar hypoplasia type 1
Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy : Two sibling cases
Tourette's syndrome in Taiwan : an epidemiological study of tic disorders in an elementary school at Taipei County
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
A case of intraneural perineurioma presenting with monomelic atrophy in a child
Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family
Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance
Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy
The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders
Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report
Mitochondrial Encephalomyopathy with Elderly Onset of Stroke-Like Episodes
Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest
Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy
A case of congenital axonal neuropathy associated with West syndrome
The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy.

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