GOTO Yu-ichi | Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Nati

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概要

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著作論文

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
Early onset distal muscular dystrophy
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
Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy
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
Direct Evidence for Two Distinct Forms of the Flavoprotein Subunit of Human Mitochondrial Complex II (Succinate-Ubiquinone Reductase)
Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
Leigh syndrome caused by mitochondrial DNA G13513A mutation : frequency and clinical features in Japan
Progressive myoclonus epilepsy with unusual neuropathologic features
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy
Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
Mitochondrial encephalomyopathy

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