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秋本 千鶴 アキモト チヅル

所属部署名脳神経センター内科部門
職名講師ホームページURL

プロフィール

学位

  • 医学博士

研究活動

論文

  • A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
    Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C
    Journal of medical genetics 51 419-424 2014年06月
  • PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis.
    Eschbach J, Schwalenstöcker B, Soyal SM, Bayer H, Wiesner D, Akimoto C, Nilsson AC, Birve A, Meyer T, Dupuis L, Danzer KM, Andersen PM, Witting A, Ludolph AC, Patsch W, Weydt P
    Human molecular genetics 22 3477-3484 2013年09月
  • A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
    Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, Hübers A, Keagle PJ, Piotrowska K, Press R, Andersen PM, Ludolph AC, Weishaupt JH
    Neurobiology of aging 34 1708.e1-6 2013年06月
  • Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites.
    Akimoto C, Sakashita E, Kasashima K, Kuroiwa K, Tominaga K, Hamamoto T, Endo H
    Biochimica et biophysica acta 1830 2728-2738 2013年03月
  • No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.
    Akimoto C, Forsgren L, Linder J, Birve A, Backlund I, Andersson J, Nilsson AC, Alstermark H, Andersen PM
    Amyotrophic lateral sclerosis & frontotemporal degeneration 14 26-29 2013年01月
  • Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians.
    Iida A, Takahashi A, Deng M, Zhang Y, Wang J, Atsuta N, Tanaka F, Kamei T, Sano M, Oshima S, Tokuda T, Morita M, Akimoto C, Nakajima M, Kubo M, Kamatani N, Nakano I, Sobue G, Nakamura Y, Fan D, Ikegawa S
    Neurobiology of aging 32 757.e13-4 2011年04月
  • High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients.
    Akimoto C, Morita M, Atsuta N, Sobue G, Nakano I
    Neurology research international 2011 165415 2011年
  • [Novel mutation in X-linked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)].
    Akimoto C, Morita M, Yamamoto M, Nakano I
    Rinsho shinkeigaku = Clinical neurology 50 399-403 2010年06月
  • [Familial amyotrophic lateral sclerosis (FALS) with a novel SOD1 gene mutation: a clinicopathological study].
    Kawamata C, Morita M, Shibata N, Nakano I
    Rinsho shinkeigaku = Clinical neurology 47 211-216 2007年05月
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  • A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
    Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C
    Journal of medical genetics 51 419-424 2014年06月
  • PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis.
    Eschbach J, Schwalenstöcker B, Soyal SM, Bayer H, Wiesner D, Akimoto C, Nilsson AC, Birve A, Meyer T, Dupuis L, Danzer KM, Andersen PM, Witting A, Ludolph AC, Patsch W, Weydt P
    Human molecular genetics 22 3477-3484 2013年09月
  • A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
    Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, Hübers A, Keagle PJ, Piotrowska K, Press R, Andersen PM, Ludolph AC, Weishaupt JH
    Neurobiology of aging 34 1708.e1-6 2013年06月
  • Translational repression of the McKusick-Kaufman syndrome transcript by unique upstream open reading frames encoding mitochondrial proteins with alternative polyadenylation sites.
    Akimoto C, Sakashita E, Kasashima K, Kuroiwa K, Tominaga K, Hamamoto T, Endo H
    Biochimica et biophysica acta 1830 2728-2738 2013年03月
  • No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden.
    Akimoto C, Forsgren L, Linder J, Birve A, Backlund I, Andersson J, Nilsson AC, Alstermark H, Andersen PM
    Amyotrophic lateral sclerosis & frontotemporal degeneration 14 26-29 2013年01月
  • Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians.
    Iida A, Takahashi A, Deng M, Zhang Y, Wang J, Atsuta N, Tanaka F, Kamei T, Sano M, Oshima S, Tokuda T, Morita M, Akimoto C, Nakajima M, Kubo M, Kamatani N, Nakano I, Sobue G, Nakamura Y, Fan D, Ikegawa S
    Neurobiology of aging 32 757.e13-4 2011年04月
  • High-Resolution Melting (HRM) Analysis of the Cu/Zn Superoxide Dismutase (SOD1) Gene in Japanese Sporadic Amyotrophic Lateral Sclerosis (SALS) Patients.
    Akimoto C, Morita M, Atsuta N, Sobue G, Nakano I
    Neurology research international 2011 165415 2011年
  • [Novel mutation in X-linked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)].
    Akimoto C, Morita M, Yamamoto M, Nakano I
    Rinsho shinkeigaku = Clinical neurology 50 399-403 2010年06月
  • [Familial amyotrophic lateral sclerosis (FALS) with a novel SOD1 gene mutation: a clinicopathological study].
    Kawamata C, Morita M, Shibata N, Nakano I
    Rinsho shinkeigaku = Clinical neurology 47 211-216 2007年05月


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