Search Results - "IMAISO, Y"

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 by Ohtsubo, T, Nishioka, K, Imaiso, Y, Iwai, S, Shimokawa, H, Oda, H, Fujiwara, T, Nakabeppu, Y

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A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia by IMAISO, Y, TANIWAKI, T, YAMADA, T, YOSHIMURA, T, HIRANO, M, UENO, S, KANEDA, N, KIRA, J

“…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 by Ohtsubo, T, Nishioka, K, Imaiso, Y, Iwai, S, Shimokawa, H, Oda, H, Fujiwara, T, Nakabeppu, Y

“…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 by Yamada, T, Minohara, M, Imaiso, Y, Sakae, N, Hara, H, Tanaka, K, Yamamoto, T, Taniwaki, T, Furuya, H, Kira, J

“…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 by Imaiso, Y, Mitsuo, K

“…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 by Imaiso, Y, Taniwaki, T, Yamada, T, Kira, J, Kobayashi, T

“…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 by Araki, E, Yamada, T, Imaiso, Y, Hara, H, Kira, J

“…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 by Horiuchi, I, Yamada, T, Imaiso, Y, Hara, H, Taniwaki, T, Kira, J

“…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 by Hirano, Makito, Imaiso, Yasuyuki, Ueno, Satoshi

“…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 by Imaiso, Y., Taniwaki, T., Yamada, T., Yoshimura, T., Hirano, M., Ueno, S., Kaneda, N., Kira, J.

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