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[Deletions of mitochondrial DNA in Kearns-Sayre syndrome].
Single large-scale deletions of mitochondrial DNA (mtDNA) are found in 70 to 80% of Kearns-Sayre syndrome (KSS) patients. Most deletions are flanked by direct repeats up to 13 nucleotides in length.Expand
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Determination of language dominance with synthetic aperture magnetometry: comparison with the Wada test
TLDR
Synthetic aperture magnetometry (SAM) is a spatial filtering technique that enables demonstration of the spatiotemporal distribution of oscillatory changes (synchronization and desynchronization) in magnetoencephalography signals elicited by specific brain activation. Expand
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Involvement of the central nervous system in myotonic dystrophy
To investigate the etiological factors responsible for intellectual impairment and mood changes in patients with myotonic dystrophy (DM), we evaluated 14 patients with DM by means ofExpand
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Treatment of Kearns‐Sayre syndrome with coenzyme Q10
We studied the metabolism of coenzyme Q10 (CoQ) and the effects of CoQ therapy in five patients with Kearns-Sayre syndrome (KSS). Although the mitochondrial fraction was increased in muscles from KSSExpand
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Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Ql0 in Kearns‐Sayre syndrome
In a patient with Kearns-Sayre syndrome, concentration of coenzyme Ql0, a component of the mito-chondrial electron transport system, was decreased in serum and in the mitochondrial fraction ofExpand
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Effects of the emotional connotations in words on the frontal areas—A spatially filtered MEG study
TLDR
The objective of this study was to elucidate how and where emotional connotations in words influenced linguistic processing in the language-related areas. Expand
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[Carnitine palmitoyltransferase II deficiency].
  • S. Yorifuji
  • Medicine
  • Nihon rinsho. Japanese journal of clinical…
  • 1 April 2002
The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. Infants with this form of the disorder develop respiratory failure, seizures, liver failure, a weakened heart muscleExpand
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Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes (MELAS)
Many CoQ trials for mitochondrial encephalomyopathy are reported, however, the action of CoQ in the central nervous system is unknown. We administered CoQ to a patient with MELAS, and decreasing CSFExpand
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Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred.
A Japanese kindred with dominantly inherited amyloid polyneuropathy, commonly called familial amyloid polyneuropathy (FAP), has been identified. Amyloid protein was transthyretin (TTR) related andExpand
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New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis.
Single-strand conformation polymorphism (SSCP) was analyzed to detect a mutation in the transthyretin (TTR) gene from the mother and son showing polyneuropathy with carpal tunnel syndrome. DNAExpand
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