Search Results - "Imaiso, Y"
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A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia
Published in Neurology (01-02-1998)“…We report a 37-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia. She developed…”
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Identification of human MutY homolog (hMYH) as a repair enzyme for 2-hydroxyadenine in DNA and detection of multiple forms of hMYH located in nuclei and mitochondria
Published in Nucleic acids research (15-03-2000)“…An enzyme activity introducing an alkali-labile site at 2-hydroxyadenine (2-OH-A) in double-stranded oligonucleotides was detected in nuclear extracts of…”
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High-dose vitamin C therapy for inclusion body myositis
Published in Fukuoka igaku zasshi = Hukuoka acta medica (01-04-2001)“…The efficiency of high-dose vitamin C therapy for inclusion body myositis (IBM) was assessed. The subjects were five patients with IBM confirmed…”
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Gerstmann-Sträussler-Scheinker syndrome with a Pro102Leu mutation in the prion protein gene and atypical MRI findings, hyperthermia, tachycardia, and hyperhidrosis
Published in Rinshō shinkeigaku (01-10-1998)“…A 64-year-old Japanese woman with Gerstmann-Sträussler-Scheinker syndrome (GSS) is reported. She was admitted to our hospital for progressive amnesia,…”
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Myelopathy due to vitamin B12 deficiency presenting only sensory disturbances in upper extremities: a case report
Published in Rinshō shinkeigaku (01-02-1997)“…We report a 54-year-old man with vitamin B12 deficiency myelopathy limited to the upper extremity region. He was well until October, 1995, when he had an onset…”
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A case of limb-girdle type myasthenia gravis in whom rheumatoid arthritis appeared immediately after thymectomy
Published in Rinshō shinkeigaku (01-02-1999)“…We report a 48-year-old female who presented limb-girdle type myasthenia gravis with inflammatory lung lesions and rheumatoid arthritis. She demonstrated a…”
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A case of stiff-man syndrome with an antineuronal autoantibody against an 80 kDa protein
Published in Rinshō shinkeigaku (01-10-1998)“…A 23-year-old Japanese man had noted intermittent muscle stiffness in his lower limbs and trunk in addition to painful muscle cramps in his back over one year…”
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Differential Splicing of the GTP Cyclohydrolase I RNA in Dopa-Responsive Dystonia
Published in Biochemical and biophysical research communications (19-05-1997)“…We characterized the GTP cyclohydrolase I (GTP-CH-I) gene in a patient with hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive…”
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A novel mutation of the GTP‐cyclohydrolase I gene in a patient with hereditary progressive dystoniddopa‐responsive dystonia
Published in Neurology (01-02-1998)Get full text
Journal Article