Search Results - "TAKIYAMA, Yoshihisa"

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    RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia by Tsuchiya, Mai, Nan, Haitian, Koh, Kishin, Ichinose, Yuta, Gao, Lihua, Shimozono, Keisuke, Hata, Takanori, Kim, Yeon-Jeong, Ohtsuka, Toshihisa, Cortese, Andrea, Takiyama, Yoshihisa

    Published in Journal of human genetics (01-12-2020)
    “…Recently, the expansion of an intronic AAGGG repeat in the replication factor C subunit 1 (RFC1) gene was reported to cause cerebellar ataxia, neuropathy,…”
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    Journal Article
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    A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature by Nan, Haitian, Shiraku, Hiroshi, Mizuno, Tomoko, Takiyama, Yoshihisa

    Published in BMC neurology (09-11-2021)
    “…Abstract Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary…”
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    Ubap1 knock-in mice reproduced the phenotype of SPG80 by Shimozono, Keisuke, Nan, Haitian, Hata, Takanori, Saito, Kozo, Kim, Yeon-Jeong, Nagatomo, Hiroaki, Ohtsuka, Toshihisa, Koizumi, Schuichi, Takiyama, Yoshihisa

    Published in Journal of human genetics (01-12-2022)
    “…Abstract SPG80 is a neurodegenerative disorder characterized by a pure type of juvenile-onset hereditary spastic paraplegia and is caused by a heterozygous…”
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    A Nepalese family with an REEP2 mutation: clinical and genetic study by Nan, Haitian, Takaki, Ryusuke, Hata, Takanori, Koh, Kishin, Takiyama, Yoshihisa

    Published in Journal of human genetics (01-07-2021)
    “…Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive weakness and…”
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    Exogenous parathyroid hormone attenuates ovariectomy-induced skeletal muscle weakness in vivo by Fujimaki, Taro, Ando, Takashi, Hata, Takanori, Takayama, Yoshihiro, Ohba, Tetsuro, Ichikawa, Jiro, Takiyama, Yoshihisa, Tatsuno, Rikito, Koyama, Katsuhiro, Haro, Hirotaka

    Published in Bone (New York, N.Y.) (01-10-2021)
    “…Osteoporosis commonly affects the elderly and is associated with significant morbidity and mortality. Loss of bone mineral density induces muscle atrophy and…”
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    Repeated Brain Magnetic Resonance Imaging Provides Clues for the Diagnosis of Autoimmune Glial Fibrillary Acid Protein Astrocytopathy by Natori, Takahiro, Fukao, Toko, Watanabe, Tsubasa, Kurita, Takafumi, Hata, Takanori, Kimura, Akio, Shindo, Kazumasa, Shimohata, Takayoshi, Takiyama, Yoshihisa

    Published in Internal Medicine (01-10-2022)
    “…We herein report a 47-year-old man with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) revealed by periventricular radial linear…”
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    Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation by Nakamura, Takumi, Kawarabayashi, Takeshi, Koh, Kishin, Takiyama, Yoshihisa, Ikeda, Yoshio, Shoji, Mikio

    Published in Internal Medicine (01-01-2021)
    “…Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder clinically characterized by slowly progressing spastic paraparesis. We herein report a…”
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    Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia by Koh, Kishin, Tsuchiya, Mai, Ishiura, Hiroyuki, Shimazaki, Haruo, Nakamura, Takeshi, Hara, Hideo, Suzuyama, Kohei, Takahashi, Makio, Tsuji, Shoji, Takiyama, Yoshihisa

    Published in Journal of human genetics (01-02-2022)
    “…Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by weakness and leg spasticity. LYST is responsible for…”
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    A clinical and genetic study of SPG31 in Japan by Hata, Takanori, Nan, Haitian, Koh, Kishin, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa

    Published in Journal of human genetics (01-07-2022)
    “…SPG31 is an autosomal dominant hereditary spastic paraplegia caused by pathogenic variants in the receptor expression-enhancing protein 1 (REEP1) gene. We…”
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    JASPAC: Japan Spastic Paraplegia Research Consortium by Koh, Kishin, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa

    Published in Brain sciences (13-08-2018)
    “…Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are…”
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    A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia by Koh, Kishin, Shimazaki, Haruo, Ogawa, Matsuo, Takiyama, Yoshihisa

    Published in Human genome variation (27-07-2022)
    “…A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). We identified…”
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    MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations by Nan, Haitian, Hata, Takanori, Fukao, Toko, Fukao, Toshimichi, Chen, Wanjing, Kurita, Takafumi, Natori, Takahiro, Takiyama, Yoshihisa

    Published in Internal Medicine (15-12-2021)
    “…We herein describe a Charcot-Marie-Tooth disease (CMT) family with a MFN2 mutation with atypical ocular manifestations. The proband, his mother, his third…”
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    SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report by Koh, Kishin, Takaki, Ryusuke, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa

    Published in BMC neurology (11-02-2021)
    “…ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B,…”
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    Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene by Nan, Haitian, Takaki, Ryusuke, Shimozono, Keisuke, Ichinose, Yuta, Koh, Kishin, Takiyama, Yoshihisa

    Published in Internal Medicine (15-08-2019)
    “…Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with…”
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