Search Results - "FUKUHARA, NOBUYOSHI"

Lower Cranial Dystonia with Inflated Cheeks: A Case of Dystonic Respiratory Failure by Suzuki, Takashi, Makifuchi, Takao, Fukuhara, Nobuyoshi

“…We herein report a 76-year-old woman who developed lower cranial dystonia with a peculiar appearance of cheek inflation. The patient showed strong contraction…”
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Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion by Fitrah, Yusran Ady, Higuchi, Yo, Hara, Norikazu, Tokutake, Takayoshi, Kanazawa, Masato, Sanpei, Kazuhiro, Taneda, Tomone, Nakajima, Akihiko, Koide, Shin, Tsuboguchi, Shintaro, Watanabe, Midori, Fukumoto, Junki, Ando, Shoichiro, Sato, Tomoe, Iwafuchi, Yohei, Sato, Aki, Hayashi, Hideki, Ishiguro, Takanobu, Takeda, Hayato, Takahashi, Toshiaki, Fukuhara, Nobuyoshi, Kasuga, Kensaku, Miyashita, Akinori, Onodera, Osamu, Ikeuchi, Takeshi

“…Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats…”
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Fukuhara disease by Fukuhara, Nobuyoshi

“…MERRF is an acronym of myoclonus epilepsy associated with ragged-red fibers and was first reported as a new nosological entity belonging to mitochondrial…”
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Reader response: Lymphoplasmacyte-rich meningioma involving the whole intracranial dura mater by Fukuhara, Nobuyoshi, Makifuchi, Takao

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Lower Cranial Dystonia with Inflated Cheeks: A Case of Dystonic Respiratory Failure by Suzuki, Takashi, Makifuchi, Takao, Fukuhara, Nobuyoshi

“…We herein report a 76-year-old woman who developed lower cranial dystonia with a peculiar appearance of cheek inflation. The patient showed strong contraction…”
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A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees by Arai, Aki, Tanaka, Keiko, Ikeuchi, Takeshi, Igarashi, Shuichi, Kobayashi, Hisashi, Asaka, Tomoya, Date, Hidetoshi, Saito, Masaaki, Tanaka, Hajime, Kawasaki, Sari, Uyama, Eiichiro, Mizusawa, Hidehiro, Fukuhara, Nobuyoshi, Tsuji, Shoji

“…Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive muscular disorder characterized by weakness of the anterior compartment of the lower…”
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Regulation of the development of allodynia by intrathecally administered P2 purinoceptor agonists and antagonists in mice by Fukuhara, Nobuyoshi, Imai, Yasuo, Sakakibara, Akira, Morita, Katsuya, Kitayama, Shigeo, Tanne, Kazuo, Dohi, Toshihiro

“…Effects of agonists and antagonists of P2X-purinoceptors on the regulation of the development of allodynia were examined in mice; the drugs were administered…”
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A suspected case of alcoholic pellagra encephalopathy with marked response to niacin showing myoclonus and ataxia as chief complaints by Sakai, Kenji, Nakajima, Takashi, Fukuhara, Nobuyoshi

“…We report a 47-year-old alcoholic man with alcoholic pellagra encephalopathy (APE) showing myoclonus and ataxia as chief complaints. He had been a heavy…”
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Transient elevation of the number of microembolic signal in a patient with primary antiphospholipid antibody syndrome by Sakai, Kenji, Nakajima, Takashi, Fukuhara, Nobuyoshi

“…We report a 55-year-old man complaining of monoparesis of the right arm and dementia. Brain magnetic resonance imaging (MRI) demonstrated multiple foci of…”
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Statistic rCBF study of extrapyramidal disorders by Kamei, Hiroshi, Nakajima, Takashi, Fukuhara, Nobuyoshi

“…We studied regional cerebral blood flow (rCBF) in 16 patients with Parkinson's disease (PD), 2 patients with dementia with Lewy bodies (DLB), 2 patients with…”
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Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying INOTCH2NLC/I Repeat Expansion by Fitrah, Yusran Ady, Higuchi, Yo, Hara, Norikazu, Tokutake, Takayoshi, Kanazawa, Masato, Sanpei, Kazuhiro, Taneda, Tomone, Nakajima, Akihiko, Koide, Shin, Tsuboguchi, Shintaro, Watanabe, Midori, Fukumoto, Junki, Ando, Shoichiro, Sato, Tomoe, Iwafuchi, Yohei, Sato, Aki, Hayashi, Hideki, Ishiguro, Takanobu, Takeda, Hayato, Takahashi, Toshiaki, Fukuhara, Nobuyoshi, Kasuga, Kensaku, Miyashita, Akinori, Onodera, Osamu, Ikeuchi, Takeshi

“…Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats…”
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A quantitative evaluation of spinocerebellar degeneration by an acoustic analysis--the effect of taltirelin hydrate on patients with Machado-Joseph disease by Shirasaki, Hiroe, Ishida, Chiho, Nakajima, Takashi, Kamei, Hiroshi, Koide, Takashi, Fukuhara, Nobuyoshi

“…A clinical evaluation of 10 patients with Machado-Joseph disease (MJD) was performed by using an acoustic analysis soft (SoundScope, GW Instruments Inc) before…”
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Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene by Takiyama, Yoshihisa, Sakai, Tetsuo, Igarashi, Shuichi, Nishizawa, Masatoyo, Awaya, Yutaka, Uekawa, Kazutoshi, Saito, Kayoko, Takahashi, Tatsuya, Date, Hidetoshi, Kawachi, Izumi, Sugano, Sumio, Iwabuchi, Kiyoshi, Koike, Ryoko, Fukuhara, Nobuyoshi, Tanaka, Hajime, Hiroi, Tadashi, Sekijima, Yoshiki, Tsuji, Shoji, Onodera, Osamu, Yuasa, Tatsuhiko, Nagatomo, Hideki

“…Friedreich ataxia (FRDA), the most common autosomal recessive neurodegenerative disease among Europeans and people of European descent, is characterized by an…”
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A Family with Adult Type Ceroid Lipofuscinosis (Kufs' Disease) and Heart Muscle Disease: Report of Two Autopsy Cases by SAKAJIRI, Ken-ichi, MATSUBARA, Nae, NAKAJIMA, Takashi, FUKUHARA, Nobuyoshi, MAKIFUCHI, Takao, WAKABAYASHI, Masatoshi, OYANAGI, Shinsaku, KOMINAMI, Eiki

“…Two cases in a family with Kufs' disease had lethal arrhythmias and heart muscle disease. Autopsy findings showed an abundant accumulation of lipofuscin-like…”
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Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases by Yasukawa, Takehiro, Kirino, Yohei, Ishii, Norie, Holt, Ian J., Jacobs, Howard T., Makifuchi, Takao, Fukuhara, Nobuyoshi, Ohta, Shigeo, Suzuki, Tsutomu, Watanabe, Kimitsuna

“…Point mutations in mitochondrial (mt) tRNA genes are associated with a variety of human mitochondrial diseases. We have shown previously that mt tRNA Leu(UUR)…”
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Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein by Sano, Yasuteru, Date, Hidetoshi, Igarashi, Shuichi, Onodera, Osamu, Oyake, Mutsuo, Takahashi, Toshiaki, Hayashi, Shintaro, Morimatsu, Mitsunori, Takahashi, Hitoshi, Makifuchi, Takao, Fukuhara, Nobuyoshi, Tsuji, Shoji

“…Early‐onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is an autosomal recessive neurodegenerative disorder characterized by early‐onset…”
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Systemic mastocytosis and recurrent anaphylactic shock by Koide, Takashi, Nakajima, Takashi, Makifuchi, Takao, Fukuhara, Nobuyoshi

“…RAST IgE, and serotonin metabolite levels, were normal except for elevated histamine (2.19 ng/mL, NR: 0.11-0.50 ng/mL) The histamine level returned to normal…”
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Human cerebellar activation in relation to saccadic eye movements: a functional magnetic resonance imaging study by Hayakawa, Yuuki, Nakajima, Takashi, Takagi, Mineo, Fukuhara, Nobuyoshi, Abe, Haruki

“…The functional organization of the human cerebellum involved in saccadic eye movements was investigated using functional magnetic resonance imaging (fMRI). The…”
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Cerebral embolism due to left atrial ball thrombus without mitral stenosis--usefulness of the transesophageal echocardiography for the diagnosis by Furui, E, Hanzawa, K, Hoshiyama, M, Nakajima, T, Fukuhara, N

“…We reported two cases of cerebral embolism associated with atrial fibrillation. Left atrial ball thrombus without mitral stenosis was diagnosed by the…”
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A case of myasthenia gravis associated with long-term phenytoin therapy by Ozawa, T, Nakajima, T, Furui, E, Fukuhara, N

“…A 22-year-old woman had been suffering from blepharoptosis and fatigabilities of both shoulders for a year. She had been administered phenytoin since age 4 to…”
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