Shimasaki Haruo 嶋崎晴雄

… Alternative Names

SHIMAZAKI Haruo 嶋崎晴雄

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Researcher Number	30316517
Other IDs	https://orcid.org/0000-0003-0628-7164
External Links
Affiliation (Current)	2024: 埼玉医科大学, 保健医療学部, 教授 2024: 自治医科大学, 医学部, 客員研究員
Affiliation (based on the past Project Information) *help	2024: 埼玉医科大学, 保健医療学部, 教授 2016: 自治医科大学, 医学部, 准教授 2009 – 2015: Jichi Medical University, 医学部, 講師 2008: Jichi Medical University, 医学部, 助教 2003 – 2004: 自治医科大学, 医学部, 助手 2000 – 2001: Jichi Medical School, Dept. Neurology, Assistant Professor, 医学部, 助手
Review Section/Research Field	Principal Investigator Neurology / Basic Section 45010:Genetics-related / Neurology Except Principal Investigator Neurology / Neurology
Keywords	Principal Investigator 連鎖解析 / EAOH / 遺伝性痙性対麻痺 / 全ゲノム解析 / 全エクソーム解析 / 神経変性疾患 / interacting proteins / subcellular localization / aprataxin / 相互作用蛋白 … More / 細胞内局在 / Aprataxin / ミトコンドリアDNA翻訳 / C12orf65 / Chediak-Higashi症候群 / 遺伝性脊髄小脳変性症 / ATM遺伝子 / TALEN / モデル動物 / LYST遺伝子 / C12orf65遺伝子 / SPG55 / エクソーム解析 / exome解析 / ARSACS / 遺伝子解析 / 多施設共同研究 / laser capture microdissection / somatic mosaicism / CAG repeat / Machado-Joseph disease … More Except Principal Investigator SCA6 / MJD / Huntington disease / Umbilical cord blood / Mitotic instability / Meiotic instability / CAG repeats / Laser microdissection / Huntington病 / 臍帯血 / mitotic instability / meiotic instability / CAGリピート / レーザーマイクロダイセクション / 遺伝性痙性対麻痺 / 脊髄小脳変性症 / GFAP / アストロサイト / アレキサンダー病 Less

Searching for causative gene variants in multisystem neurodegenerative diseases using small family samplesPrincipal Investigator
- Principal Investigator
  
  嶋崎晴雄
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 45010:Genetics-related
- Research Institution
  Saitama Medical University
Clinical and pathophysiological studies of Alexander disease caused by GFAP gene mutation
- Principal Investigator
  
  NAMEKAWA Michito
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Jichi Medical University
Identification of the novel genes responsible for hereditary spastic paraplegiasPrincipal Investigator
- Principal Investigator
  
  SHIMAZAKI HARUO
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Jichi Medical University
Genetic epidemiology of hereditary spastic paraplegia (HSP) in Japan and Identification of novel mutations in HSP genesPrincipal Investigator
- Principal Investigator
  
  SHIMAZAKI Haruo
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Jichi Medical University
Isolation of the interacting proteins with aprataxin and its subcellular localization.Principal Investigator
- Principal Investigator
  
  SHIMAZAKI Haruo
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  JICHI MEDICAL SCHOOL
Machado-Joseph病患者脳におけるCAGリピートの体細胞モザイクの解析-レーザーキャプチャーマイクロダイセクション法を用いて-Principal Investigator
- Principal Investigator
  
  嶋崎晴雄
- Project Period (FY)
  2000 – 2001
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Neurology
- Research Institution
  Jichi Medical University
レーザーマイクロダイセクションを用いたCAGリピートの不安定化機構の研究
- Principal Investigator
  
  TAKIYAMA Yoshihisa
- Project Period (FY)
  1999 – 2000
- Research Category
  
  Grant-in-Aid for Scientific Research (B).
- Research Field
  
  Neurology
- Research Institution
  Jichi Medical School

All 2015 2014 2013 2012 2011 2010 2009 2008 2005 2004 2003 Other

All Journal Article Presentation Book

[Book] Spinocerebellar Ataxia2012
- Author(s)
  Shimazaki H and Takiyama Y.
- Total Pages
  172
- Publisher
  InTech
- Data Source
  KAKENHI-PROJECT-23591253
[Book] Autosomal recessive spastic ataxia of Charlevoix-Saguenay : clinical, radiological and epidemiological aspects. Spinocerebellar Ataxia(Edited by Prof. Jose Gazulla)2012
- Author(s)
  Shimazaki H and Takiyama Y
- Publisher
  InTech, Rijeka, Croatia(ISBN:978-953-51-0542-8)(査読有)
- Data Source
  KAKENHI-PROJECT-23591253
[Book] Clinical aspects of anti-NMDA receptor encephalitis. In Pathogenesis of encephalitis2011
- Author(s)
  Shimazaki H.
- Total Pages
  344
- Publisher
  InTech, Rijeka, Croatia.
- Data Source
  KAKENHI-PROJECT-23591253
[Book] 医薬品副作用ハンドブック第2版2010
- Author(s)
  嶋崎晴雄, 他
- Publisher
  日本臨床社
- Data Source
  KAKENHI-PROJECT-20591009
[Book] 医薬品副作用ハンドブック第2版2010
- Author(s)
  嶋崎晴雄, 中野今治
- Total Pages
  473
- Publisher
  日本臨床社
- Data Source
  KAKENHI-PROJECT-20591009
[Book] SCA6, EAOH/AOA1 in Research Advances in Spinocerebellar Ataxia and Spastic Paraplegia.2008
- Author(s)
  Shimazaki H, Takiyama Y, et al.
- Publisher
  Research Signpost
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] "Hot Cross Bun" Sign Associated with SCA12015
- Author(s)
  Namekawa M, Honda J, Shimazaki H
- Journal Title
  
  Intern. Med.
  
  Volume: 54 Issue: 7 Pages: 859-860
- DOI
  10.2169/internalmedicine.54.3460
- NAID
  130005063202
- ISSN
  0918-2918, 1349-7235
- Language
  English
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461297
[Journal Article] Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: A case report.2014
- Author(s)
  Kameda T, Namekawa M, Shimazaki H, Minakata D, Matsuura T, Nakano I
- Journal Title
  
  Cephalalgia
  
  Volume: 34 Issue: 13 Pages: 1093-1096
- DOI
  10.1177/0333102414529197
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461297, KAKENHI-PROJECT-26670170
[Journal Article] 常染色体劣性遺伝性痙性対麻痺2014
- Author(s)
  嶋崎晴雄
- Journal Title
  
  日本臨床別冊神経症候群II-その他の神経疾患を含めて-
  
  Volume: 第2版 Pages: 438-442
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] Autosomal recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.2014
- Author(s)
  Shimazaki H, et al.
- Journal Title
  
  J Neurol Neurosurg Psychiatry
  
  Volume: 85 Issue: 9 Pages: 1-5
- DOI
  10.1136/jnnp-2013-306981
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591253, KAKENHI-PROJECT-25461275, KAKENHI-PROJECT-26461297
[Journal Article] 常染色体劣性遺伝性痙性対麻痺2014
- Author(s)
  嶋崎晴雄
- Journal Title
  
  日本臨床別冊：神経症候群II-その他の神経疾患を含めて-
  
  Volume: 72 Pages: 438-442
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] 視神経萎縮,末梢神経障害を伴う常染色体劣性遺伝性痙性対麻痺(SPG55).特集/脊髄小脳変性症の研究の進歩2013
- Author(s)
  嶋崎晴雄
- Journal Title
  
  神経内科
  
  Volume: 78(3) Pages: 283-9
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.2013
- Author(s)
  Buchert R, Shimazaki H, et al.
- Journal Title
  
  Eur J Med Genet
  
  Volume: 56 Issue: 11 Pages: 599-602
- DOI
  10.1016/j.ejmg.2013.09.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] Middle cerebellar peduncles and pontine T2 hypointensities in ARSACS2013
- Author(s)
  Shimazaki H, Takiyama Y, Honda J, Sakoe K, Namekawa M, Tsugawa J, Tsuboi Y, Suzuki C, Baba M, Nakano I
- Journal Title
  
  J Neuroimaging
  
  Volume: 23(1) Issue: 1 Pages: 82-85
- DOI
  10.1111/j.1552-6569.2011.00647.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] 視神経萎縮,末梢神経障害を伴う常染色体劣性遺伝性痙性対麻痺(SPG55)2013
- Author(s)
  嶋崎晴雄
- Journal Title
  
  神経内科
  
  Volume: 78 Pages: 283-289
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay2012
- Author(s)
  Haga R, Miki Y, Funamizu Y, Kon T, Suzuki C, Ueno T, Nishijima H, Arai A, Tomiyama M, Shimazaki H, Takiyama Y, Baba M
- Journal Title
  
  Clin Neurol Neurosurg
  
  Volume: 114(6) Issue: 6 Pages: 746-747
- DOI
  10.1016/j.clineuro.2011.12.019
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] 脊髄小脳変性症,多系統萎縮症,進行性核上性麻痺.疾患概念の変遷と,脊髄疾患ならびにパーキンソン病との鑑別2012
- Author(s)
  嶋崎晴雄,中野今治
- Journal Title
  
  脊髄外科SPINAL SURGERY
  
  Volume: 26(3) Pages: 278-283
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy2012
- Author(s)
  Namekawa M, Shimazaki H, et al.
- Journal Title
  
  Neurol Sci
  
  Volume: 33 Issue: 6 Pages: 1389-1392
- DOI
  10.1007/s10072-011-0902-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)2012
- Author(s)
  Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I
- Journal Title
  
  J Med Genet
  
  Volume: 49(12) Issue: 12 Pages: 777-84
- DOI
  10.1136/jmedgenet-2012-101212
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591253, KAKENHI-PROJECT-221S0002
[Journal Article] 常染色体劣性遺伝性痙性対麻痺の臨床-SPG11, ARSACSを中心に2011
- Author(s)
  嶋崎晴雄
- Journal Title
  
  神経内科 74
  
  Pages: 127-134
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 遺伝性痙性対麻痺の疫学2011
- Author(s)
  瀧山嘉久, 嶋崎晴雄, ら
- Journal Title
  
  神経内科
  
  Volume: 74 Pages: 141-145
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 常染色体劣性遺伝性痙性対麻痺の臨床-SPG11,ARSACSを中心に2011
- Author(s)
  嶋崎晴雄
- Journal Title
  
  神経内科
  
  Volume: 74 Pages: 127-134
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 一級症状（K. Schneider）を呈した抗NMDA受容体脳炎の一例．2011
- Author(s)
  松本卓也，嶋崎晴雄ら
- Journal Title
  
  精神科治療学
  
  Volume: 26巻 Pages: 1035-1043
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] 常染色体劣性遺伝性痙性対麻痺の臨床-SPG11, ARSACSを中心に-,特集/遺伝性痙性対麻痺-update2011
- Author(s)
  嶋崎晴雄
- Journal Title
  
  神経内科
  
  Volume: 74(2) Pages: 127-134
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] 当院におけるPosterior reversible encephalopathy syndrome (PRES) 12症例の検討．2011
- Author(s)
  中原圭一，嶋崎晴雄ら
- Journal Title
  
  日本神経救急学会雑誌
  
  Volume: 23巻 Pages: 24-28
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] 遺伝性痙性対麻痺の疫学:JASPAC.特集/遺伝性痙性対麻痺-update2011
- Author(s)
  瀧山嘉久,石浦浩之,嶋崎晴雄,辻省次,西澤正豊
- Journal Title
  
  神経内科
  
  Volume: 74(2) Pages: 141-145
- Data Source
  KAKENHI-PROJECT-23591253
[Journal Article] 遺伝性痙性対麻痺の疫学2011
- Author(s)
  瀧山嘉久, 嶋崎晴雄, 他
- Journal Title
  
  神経内科 74
  
  Pages: 141-145
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial.2010
- Author(s)
  Katsuno M, Shimazaki H, et al.
- Journal Title
  
  Lancet Neurology. 9
  
  Pages: 875-884
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Adult-onset Alexander disease with typical "tadpole" appearance of the brainstem and unusual involvement of bilateral basal ganglia : a case report and review of the literature.2010
- Author(s)
  Namekawa M, Shimazaki H, et al.
- Journal Title
  
  BMC Neurology
  
  Volume: 10 Pages: 21-21
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] A型ボツリヌス中毒の82歳男性例2010
- Author(s)
  中村優子, 嶋崎晴雄, 他
- Journal Title
  
  Neuroin fection 15
  
  Pages: 46-50
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 経過中にPosterior reversible encephalopathy syndrome(PRES)と甲状腺癌を合併した視神経脊髄炎の47歳女性例2010
- Author(s)
  嶋崎晴雄, 他
- Journal Title
  
  日本内科学会雑誌 99
  
  Pages: 1913-1915
- NAID
  10026623444
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Adult-onset Alexander disease with typical "tadpole" appearance of the brainstem and unusual involvement of bilateral basal ganglia : a case report and review of the literature2010
- Author(s)
  Namekawa M, Shimazaki H, et al.
- Journal Title
  
  BMC Neurology 10
  
  Pages: 21-21
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 経過中にPosterior reversible encephalopathy syndrome(PRES)と甲状腺癌を合併した視神経脊髄炎の47歳女性例2010
- Author(s)
  嶋崎晴雄, ら
- Journal Title
  
  日本内科学会雑誌
  
  Volume: 99 Pages: 1913-1915
- NAID
  10026623444
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Adult-onset Alexander disease with typical "tadpole" appearance of the brainstem and unusual involvement of bilateral basal ganglia : a case report and review of the literature.2010
- Author(s)
  Namekawa M, Shimazaki H, et al.
- Journal Title
  
  BMC Neurology. 10
  
  Pages: 21-21
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] A型ボツリヌス中毒の82歳男性例2010
- Author(s)
  中村優子, 嶋崎晴雄, ら
- Journal Title
  
  Neuroinfection
  
  Volume: 15 Pages: 46-50
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 経過中に Posterior reversible encephalopathy syndrome(PRES)と甲状腺癌を合併した視神経脊髄炎の47歳女性例2010
- Author(s)
  嶋崎晴雄, 他
- Journal Title
  
  日本内科学会雑誌 99(in press)
- NAID
  10026623444
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study) : a multicentre, randomised, double-blind, placebo-controlled trial.2010
- Author(s)
  Katsuno M, Shimazaki H, et al
- Journal Title
  
  Lancet Neurology
  
  Volume: 9 Pages: 875-884
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Reversible limbic encephalitis with antibodies against the membranes of neurons of the hippocampus2009
- Author(s)
  嶋崎晴雄, 他
- Journal Title
  
  BMJ Case Reports doi:10.1136(online)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Reversible limbic encephalitis with antibodies against the membranes of neurons of the hippocampus.2009
- Author(s)
  嶋崎晴雄, et al.
- Journal Title
  
  BMJ Case Reports.
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 当科における抗NMDAレセプター抗体関連脳炎3症例の検討2009
- Author(s)
  嶋崎晴雄, 他
- Journal Title
  
  Neuroinfection 14
  
  Pages: 87-89
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 当科における抗NMDAレセプター抗体関違脳炎3症例の検討2009
- Author(s)
  嶋崎晴雄, 他
- Journal Title
  
  Neuroinfection 14
  
  Pages: 89-97
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 大脳にび慢性脳血流低下を認めた孤発性AOA1(ataxia with ocular apraxia type 1)-末梢神経障害を伴う脊髄小脳変陛症の1例2008
- Author(s)
  池田将樹, 嶋崎晴雄, 他
- Journal Title
  
  群馬県核医学研究会誌 23
  
  Pages: 17-19
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] A large family with spinocerebellar ataxia type 6 in Iran : a clinical and genetic study.2008
- Author(s)
  Shimazaki H, et al.
- Journal Title
  
  Arch Iran Med 11
  
  Pages: 459-462
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Inverse ocular bobbing in a patient with encephalitis associated with a ntibodies to the N-methyl-D-aspartate receptor.2008
- Author(s)
  Shimazaki H, et al.
- Journal Title
  
  Arch Neurol 65
  
  Pages: 1251-1251
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 大脳にび慢性脳血流低下を認めた孤発性AOA1 (ataxia with ocularapraxia type 1)-末梢神経障害を伴う脊髄小脳変性症の1例2008
- Author(s)
  池田将樹, 嶋崎晴雄ら.
- Journal Title
  
  群馬県核医学研究会誌 23
  
  Pages: 17-19
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Inverse ocular bobbing in a patient with encephalitis associated with antibodies to the N-methyl-D-aspartate receptor.2008
- Author(s)
  嶋崎晴雄, et al.
- Journal Title
  
  Arch Neurol. 65
  
  Pages: 1251-1251
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] A large family with spinocerebellar ataxia type 6 in Iran : clinical and genetic study.2008
- Author(s)
  嶋崎晴雄, et al.
- Journal Title
  
  Arch Iran Med. 11
  
  Pages: 459-462
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Novel SACS mutation in a Belgian family with sacsin-related ataxia.2008
- Author(s)
  Ouyang Y, Shimazaki H, et al.
- Journal Title
  
  J Neurol Sci 264
  
  Pages: 73-76
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] Novel SACS mutation in a Belgian family with sacsin-related ataxia.2008
- Author(s)
  Ouyang Y, Shimazaki H, et al.
- Journal Title
  
  J Neurol Sci. 264
  
  Pages: 73-76
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591009
[Journal Article] 下肢の多発性単神経根症で発症した髄膜癌腫症の1剖検例2005
- Author(s)
  石川剛久, 嶋崎晴雄ら
- Journal Title
  
  臨床神経学 45(1)
  
  Pages: 32-37
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] A phenotype without spasticity in sacsin-related ataxia2005
- Author(s)
  H.Shimazaki, Y Takiyama et al.
- Journal Title
  
  Neurology (in press)
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] An autopsy case of origin-unidentified meningeal carcinomatosis presenting with monoradiculopathy multiplex in the lower extremities.2005
- Author(s)
  Ishikawa T, Shimazaki H, et al.
- Journal Title
  
  Rinsho Shinkeigaku 45
  
  Pages: 32-37
- NAID
  10014319061
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] A phenotype without spasticity in sacsin-related ataxia.2005
- Author(s)
  Shimazaki H, Takiyama Y, et al.
- Journal Title
  
  Neurology (in press)
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] Myositis : A radiological diagnosis.2004
- Author(s)
  Shimazaki H, Nakano I.
- Journal Title
  
  Clinical Neuroscience 22
  
  Pages: 1163-1165
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] 筋炎画像診断2004
- Author(s)
  嶋崎晴雄, 中野今治
- Journal Title
  
  Clinical Neuroscience 22(10)
  
  Pages: 1163-1165
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] 2602delGをホモ接合体で有し小脳失調を呈した無セルロプラスミン血症の1例2004
- Author(s)
  永田三保子, 滝山嘉久, 嶋崎晴雄ら
- Journal Title
  
  脳と神経 56(10)
  
  Pages: 885-889
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] Identification of a SACS gene missense mutation in ARSACS.2004
- Author(s)
  Ogawa T, Takiyama Y, Sakoe K, Shimazaki H, et al.
- Journal Title
  
  Neurology 62
  
  Pages: 107-109
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG.2004
- Author(s)
  Nagata M, Takiyama Y, Shimazaki H, et al.
- Journal Title
  
  No to Shinkei 56
  
  Pages: 885-889
- NAID
  40019912656
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] Identification of a SACS gene missense mutation in ARSACS2004
- Author(s)
  T.Ogawa, Y.Takiyama, K.Sakoe, H.Shimazaki et al.
- Journal Title
  
  Neurology 62(1)
  
  Pages: 107-109
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] MRIで辺縁系大脳皮質に限局した造影効果を認めた単純ヘルペス脳炎の1例2003
- Author(s)
  嶋崎晴雄, 滝山嘉久ら
- Journal Title
  
  Neuro-infection 7(1)
  
  Pages: 23-24
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Journal Article] A case of herpes simplex encephalitis with marked enhancement only in the limbic cortex.2003
- Author(s)
  Shimazaki H, Takiyama Y, et al.
- Journal Title
  
  Neuro-infection 7
  
  Pages: 23-24
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15590905
[Presentation] Adult Chediak-Higashi syndrome presenting as spastic paraplegia, cerebellar ataxia and neuropathy2013
- Author(s)
  Shimazaki H, Takiyama Y, Ishiura H, Tsuji S, Yazaki M, Nakano I
- Organizer
  American Academy of Neurology 65^<th> Annual Meeting
- Place of Presentation
  San Diego
- Year and Date
  2013-05-21
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 小脳失調,末梢神経障害を呈した常染色体劣性遺伝性痙性対麻痺家系の遺伝子解析2013
- Author(s)
  嶋崎晴雄,本多純子,直井為任,滑川道人,石浦浩之,福田陽子,高橋祐二,後藤順,辻省次,矢崎正英,中村勝哉,吉田邦広,池田修一,瀧山嘉久,中野今治
- Organizer
  第54回日本神経学会総会
- Place of Presentation
  東京
- Year and Date
  2013-05-31
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 小脳失調，末梢神経障害を呈した常染色体劣性遺伝性痙性対麻痺家系の遺伝子解析2013
- Author(s)
  嶋崎晴雄ら．
- Organizer
  平成24年度運動失調症の病態解明と治療法開発に関する研究班会議
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] Novel ATM mutation in autosomal recessive late-onset cerebellar ataxia with neuropathy2013
- Author(s)
  Shimazaki H, Sugaya R, Honda J, Meguro A, Nakano I
- Organizer
  American Society of Human Genetics 2013 Annual Meeting
- Place of Presentation
  Boston
- Year and Date
  2013-10-24
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] Adult Chediak-Higashi syndrome presenting as spastic paraplegia, cerebellar ataxia and neuropathy2013
- Author(s)
  Shimazaki H, et.al.
- Organizer
  American Academy of Neurology 65th Annual Meeting
- Place of Presentation
  San Diego
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 常染色体劣性遺伝が疑われた遺伝痙性対麻痺症例のexome解析2013
- Author(s)
  石浦浩之,高紀信、嶋崎晴雄、三井純、高橋祐二、吉村淳、土井晃一郎、森下真一、後藤順、瀧山嘉久、辻省次、JASPAC
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Year and Date
  2013-11-22
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 視神経萎縮, 末梢神経障害を伴う遺伝性痙性対麻痺の原因遺伝子同定．2012
- Author(s)
  嶋崎晴雄ら．
- Organizer
  平成23年度運動失調症の病態解明と治療法開発に関する研究班会議
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] Homozygous nonsense mutations of C12orf65 gene in patients with spastic paraplegia, optic atrophy and neuropathy (SPG55)2012
- Author(s)
  Shimazaki H, Takiyama Y, Ishiura H, Tsuji S, Goto Y, Nakano I
- Organizer
  2012 Annual Meeting of American Neurological Association
- Place of Presentation
  Boston
- Year and Date
  2012-10-07
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 遺伝性痙性対麻痺の新規原因遺伝子同定とその機能解析2012
- Author(s)
  嶋崎晴雄ら．
- Organizer
  新学術｢ゲノム支援｣拡大班会議
- Place of Presentation
  御殿場
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺の原因遺伝子同定2012
- Author(s)
  嶋崎晴雄,石浦浩之,福田陽子,本多純子,迫江公己,太田京子,直井為任,滑川道人,高橋祐二,後藤順,辻省次,後藤雄一,瀧山嘉久,中野今治
- Organizer
  第53回日本神経学会総会
- Place of Presentation
  東京
- Year and Date
  2012-05-23
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] Diffuse reduction of cerebral blood flow, cognitive impairment and depressive mood in sporadic SCD cases with APTX and SETX mutations.2011
- Author(s)
  Ikeda M, Shimazaki H, et al.
- Organizer
  4th International Symposium, Society for Research on the Cerebellum.
- Place of Presentation
  Tokyo
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と,原因遺伝子検索2011
- Author(s)
  嶋崎晴雄,石浦浩之,福田陽子,本多純子,太田京子,直井為任,滑川道人,迫江公己,高橋祐二,後藤順,辻省次,瀧山嘉久,中野今治
- Organizer
  第52回日本神経学会総会
- Place of Presentation
  名古屋
- Year and Date
  2011-05-20
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と原因遺伝子検索2011
- Author(s)
  嶋崎晴雄, 他
- Organizer
  平成22年度運動失調に関する調査及び病態機序に関する研究班会議
- Place of Presentation
  東京
- Year and Date
  2011-01-14
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と, 原因遺伝子検索.2011
- Author(s)
  嶋崎晴雄ら．
- Organizer
  第52回日本神経学会総会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] SPG4遺伝子産物spastinの機能解析2011
- Author(s)
  迫江公己,嶋崎晴雄,滑川道人,直井為任,本多純子,瀧山嘉久,中野今治
- Organizer
  第52回日本神経学会総会
- Place of Presentation
  名古屋
- Year and Date
  2011-05-18
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] spastin蛋白の機能解析2011
- Author(s)
  迫江公己, 嶋崎晴雄, ら
- Organizer
  平成22年度運動失調に関する調査及び病態機序に関する研究班会議
- Place of Presentation
  東京
- Year and Date
  2011-01-14
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 視神経萎縮, 末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と原因遺伝子検索2011
- Author(s)
  嶋崎晴雄, ら
- Organizer
  平成22年度運動失調に関する調査及び病態機序に関する研究班会議
- Place of Presentation
  東京
- Year and Date
  2011-01-14
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 当科における常染色体劣性遺伝性脊髄小脳変性症(ARSCD)の遺伝子解析2010
- Author(s)
  嶋崎晴雄, 他
- Organizer
  第51回日本神経学会総会
- Place of Presentation
  東京
- Year and Date
  2010-05-22
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Impact of Protein Phosphatase PP2A on ATRA-Induced Activation of FoxO3a In Acute Promyelocytic Leukemia Cells.2010
- Author(s)
  Sakoe Y, Shimazaki H, et al.
- Organizer
  52nd annual meeting of the American Society of Hematology
- Place of Presentation
  Orlando
- Year and Date
  2010-12-04
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Autosomal recessive spastic ataxia of Charlevoix-Saguenay(ARSACS)の頭部MRI所見2010
- Author(s)
  嶋崎晴雄, 他
- Organizer
  平成21年度運動失調に関する調査及び病態機序に関する研究班会議
- Place of Presentation
  東京
- Year and Date
  2010-01-14
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)の頭部MRI所見2010
- Author(s)
  嶋崎晴雄, 他
- Organizer
  平成21年度運動失調に関する調査及び病態機序に関する研究班会議
- Place of Presentation
  東京
- Year and Date
  2010-01-14
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Charlevoix-Saguenay型劣性遺伝性痙性失調症の1例2010
- Author(s)
  羽賀理恵, 嶋崎晴雄, 他
- Organizer
  第87回日本神経学会東北地方会
- Place of Presentation
  山形
- Year and Date
  2010-09-11
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 視神経萎縮末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と,その候補遺伝子解析2010
- Author(s)
  嶋崎晴雄, 他
- Organizer
  第55回日本人類遺伝学会
- Place of Presentation
  大宮
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と,その候補遺伝子解析2010
- Author(s)
  嶋崎晴雄, ら
- Organizer
  第55回日本人類遺伝学会
- Place of Presentation
  大宮
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Novel compound heterozygous mutations in a family with Sacsin-related ataxia2009
- Author(s)
  Tsugawa J, Shimazaki H, et al.
- Organizer
  13^<th> International congress of Parkinson's disease and Movement disorders
- Place of Presentation
  Paris
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] SPG17の原因遺伝子 seipin のナンセンス変異をヘテロ接合で認めた痙性対麻痺の1家系2009
- Author(s)
  嶋崎晴雄, 他
- Organizer
  第50回日本神経学会総会
- Place of Presentation
  仙台
- Year and Date
  2009-05-21
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Seipin遺伝子のナンセンス変異をホモ接合で認めた家族性痙性対麻痺の1家系2009
- Author(s)
  嶋崎晴雄, 他
- Organizer
  平成20年度運動失調に関する調査及び病態機序に関する研究班会議
- Place of Presentation
  東京
- Year and Date
  2009-01-16
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Novel compound heterozygous mutations in a family with Sacsin-related ataxia.2009
- Author(s)
  Tsugawa J, Shimazaki H, et al.
- Organizer
  13^<th> International congress of Parkinson's disease and Movement disorders
- Place of Presentation
  Paris
- Year and Date
  2009-06-11
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 非ケベックARSACS症例の臨床・分子遺伝学的検討2009
- Author(s)
  嶋崎晴雄, 他
- Organizer
  第54回日本人類遺伝学会大会
- Place of Presentation
  東京
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] SPG17の原因遺伝子seipinのナンセンス変異をヘテロ接合で認めた痙性対麻痺の1家系2009
- Author(s)
  嶋崎晴雄, 他
- Organizer
  第50回日本神経学会総会
- Place of Presentation
  仙台
- Year and Date
  2009-05-21
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Seipin遺伝子のナンセンス変異をホモ接合で認めた家族性痙性対麻痺の1家系.2009
- Author(s)
  嶋崎晴雄ら.
- Organizer
  平成20年度運動失調に関する調査及び病態機序に関する研究班会議.
- Place of Presentation
  東京
- Year and Date
  2009-01-16
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 嶋崎晴雄, 安藤綾子, 中村優子, 神林崇, 田中恵子, 中野今治. Posterior reversible encephalopathy syndrome(PRES)を来たし, 甲状腺癌を合併した視神経脊髄炎の47歳女性例2009
- Author(s)
  嶋崎晴雄, 他
- Organizer
  第567回日本内科学会関東地方会
- Place of Presentation
  東京
- Year and Date
  2009-11-14
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 遺伝性痙性対麻痺の大規模分子疫学の解明2009
- Author(s)
  石浦浩之, 嶋崎晴雄, 他
- Organizer
  第50回日本神経学会総会
- Place of Presentation
  仙台
- Year and Date
  2009-05-20
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 当科における抗NMDAレセプター抗体関違脳炎3症例の検討2008
- Author(s)
  嶋崎晴雄, 他
- Organizer
  第13回日本神経感染症学会総会
- Place of Presentation
  東京
- Year and Date
  2008-10-11
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] 当科における抗NMDAレセプター抗体関連脳炎3症例の検討.2008
- Author(s)
  嶋崎晴雄ら.
- Organizer
  第13回日本神経感染症学会総会
- Place of Presentation
  東京
- Year and Date
  2008-10-11
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] ARSACSのMRI,SPECT所見2008
- Author(s)
  嶋崎晴雄, 他
- Organizer
  第49回日本神経学会総会
- Place of Presentation
  横浜
- Year and Date
  2008-05-15
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] ARSACSのMRI, SPECT所見2008
- Author(s)
  嶋崎晴雄ら.
- Organizer
  第49回日本神経学会総会.
- Place of Presentation
  横浜
- Year and Date
  2008-05-15
- Data Source
  KAKENHI-PROJECT-20591009
[Presentation] Novel ATM mutation in autosomal recessive late-onset cerebellar ataxia with neuropathy.
- Author(s)
  Shimazaki, H. et al.
- Organizer
  American Society of Human Genetics 2013 Annual Meeting
- Place of Presentation
  Boston
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 常染色体劣性遺伝性痙性対麻痺の新規原因遺伝子探索
- Author(s)
  嶋崎晴雄ら．
- Organizer
  平成25年度運動失調症の病態解明と治療法開発に関する研究班会議
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 小脳失調，末梢神経障害を呈した常染色体劣性遺伝性痙性対麻痺家系の遺伝子解析．
- Author(s)
  嶋崎晴雄ら．
- Organizer
  第54回日本神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] 末梢神経障害が初発症状であった悪性リンパ腫 (neurolymphomatosis) の4例
- Author(s)
  林夢夏，滑川道人，角田顕子，益子貴史，小野さやか，中尾紘一，安藤喜仁，澤田幹雄，嶋崎晴雄，松浦徹
- Organizer
  第55回日本神経学会学術大会
- Place of Presentation
  福岡
- Year and Date
  2014-05-21 – 2014-05-24
- Data Source
  KAKENHI-PROJECT-26461297
[Presentation] 常染色体劣性遺伝性痙性対麻痺の新規原因遺伝子探索
- Author(s)
  嶋崎晴雄ら．
- Organizer
  新学術｢ゲノム支援｣2013年度拡大班会議
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-23591253
[Presentation] SCA1の1家系3名の臨床的考察
- Author(s)
  滑川道人，本多純子，直井為任，嶋崎晴雄，松浦徹
- Organizer
  第55回日本神経学会学術大会
- Place of Presentation
  福岡
- Year and Date
  2014-05-21 – 2014-05-24
- Data Source
  KAKENHI-PROJECT-26461297

1. TAKIYAMA Yoshihisa (00245052)

# of Collaborated Projects: 3 results

# of Collaborated Products: 21 results
2. NAMEKAWA Michito (30332993)

# of Collaborated Projects: 2 results

# of Collaborated Products: 3 results
3. NISHIZAWA Masatoyo (80198457)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. 直井為任 (30598694)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results

Shimasaki Haruo 嶋崎 晴雄

SHIMAZAKI Haruo 嶋崎 晴雄

Research Projects

Research Products

Co-Researchers

Searching for causative gene variants in multisystem neurodegenerative diseases using small family samplesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

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Clinical and pathophysiological studies of Alexander disease caused by GFAP gene mutation

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Identification of the novel genes responsible for hereditary spastic paraplegiasPrincipal Investigator

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Genetic epidemiology of hereditary spastic paraplegia (HSP) in Japan and Identification of novel mutations in HSP genesPrincipal Investigator

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Isolation of the interacting proteins with aprataxin and its subcellular localization.Principal Investigator

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Machado-Joseph病患者脳におけるCAGリピートの体細胞モザイクの解析-レーザーキャプチャーマイクロダイセクション法を用いて-Principal Investigator

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レーザーマイクロダイセクションを用いたCAGリピートの不安定化機構の研究

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[Book] Spinocerebellar Ataxia2012

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[Book] Autosomal recessive spastic ataxia of Charlevoix-Saguenay : clinical, radiological and epidemiological aspects. Spinocerebellar Ataxia(Edited by Prof. Jose Gazulla)2012

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[Book] Clinical aspects of anti-NMDA receptor encephalitis. In Pathogenesis of encephalitis2011

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[Book] 医薬品副作用ハンドブック第2版2010

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[Book] 医薬品副作用ハンドブック 第2版2010

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[Book] SCA6, EAOH/AOA1 in Research Advances in Spinocerebellar Ataxia and Spastic Paraplegia.2008

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[Journal Article] "Hot Cross Bun" Sign Associated with SCA12015

Author(s)

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Shimasaki Haruo 嶋崎晴雄

SHIMAZAKI Haruo 嶋崎晴雄

[Book] 医薬品副作用ハンドブック第2版2010