A follow-up study of congenital non-progressive myopathies
スポンサーリンク
概要
著者
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NONAKA Ikuya
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
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AKIYAMA Chieko
Department of Biological Production, Faculty of Bioresource Sciences, Akita Prefectural University
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Akiyama Chieko
Department Of Biological Production Faculty Of Bioresource Sciences Akita Prefectural University
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Akiyama Chieko
Department Of Ultrastructural Research National Institute Of Neuroscience National Center Of Neurolo
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Nonaka Ikuya
Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn
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Nonaka Ikuya
Department Of Laboratory Medicine National Center Hospital For Mental Nervous And Muscular Disorders
関連論文
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- A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I
- Effect of cadmium on the chemical composition of xylem exudate from oilseed rape plants (Brassica napus L.)(Plant Nutrition)
- 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.