川上 秀史Hideshi Kawakami

Last Updated :2024/06/05

所属・職名
原爆放射線医科学研究所 教授
メールアドレス
hkawakamhiroshima-u.ac.jp

基本情報

学位

  • 博士(医学) (京都大学)

研究分野

  • 医歯薬学 / 内科系臨床医学 / 神経内科学

研究キーワード

  • 原爆被爆者
  • 遺伝要因
  • 脊髄小脳失調症
  • 広島
  • 神経
  • トリプットリピート
  • オプチニューリン

教育活動

授業担当

  1. 2024年, 学部専門, 集中, 医学研究実習
  2. 2024年, 修士課程・博士課程前期, セメスター(前期), 特別演習
  3. 2024年, 修士課程・博士課程前期, セメスター(後期), 特別演習
  4. 2024年, 修士課程・博士課程前期, セメスター(前期), 特別研究
  5. 2024年, 修士課程・博士課程前期, セメスター(後期), 特別研究
  6. 2024年, 博士課程・博士課程後期, セメスター(前期), 特別演習
  7. 2024年, 博士課程・博士課程後期, セメスター(後期), 特別演習
  8. 2024年, 博士課程・博士課程後期, セメスター(前期), 特別研究
  9. 2024年, 博士課程・博士課程後期, セメスター(後期), 特別研究
  10. 2024年, 博士課程・博士課程後期, セメスター(前期), 分子疫学特別演習
  11. 2024年, 博士課程・博士課程後期, セメスター(後期), 分子疫学特別演習
  12. 2024年, 博士課程・博士課程後期, セメスター(前期), 分子疫学特別研究
  13. 2024年, 博士課程・博士課程後期, セメスター(後期), 分子疫学特別研究
  14. 2024年, 博士課程・博士課程後期, 2ターム, ゲノム編集先端研究特論B

研究活動

学術論文(★は代表的な論文)

  1. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, AMERICAN JOURNAL OF HUMAN GENETICS, 110巻, 7号, pp. 1086-1097, 20230706
  2. Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection, PLOS ONE, 18巻, 6号, 20230623
  3. Mapping Genes Related to Early Onset Major Depressive Disorder in Dagestan Genetic Isolates, TURK PSIKIYATRI DERGISI, 23巻, 3号, pp. 161-170, 2012
  4. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 10巻, 1号, 20221207
  5. Comparison of two families with and without ataxia harboring novel variants in PRKCG, JOURNAL OF HUMAN GENETICS, 67巻, 10号, pp. 595-599, 202210
  6. TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis, JAMA NEUROLOGY, 79巻, 7号, pp. 693-701, 202207
  7. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24巻, 7号, pp. 1034-1041, 20090515
  8. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122巻, 2号, pp. 223-229, 201108
  9. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32巻, 10号, 201110
  10. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505巻, 3号, pp. 279-281, 20111121
  11. Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data, RADIATION AND ENVIRONMENTAL BIOPHYSICS, 51巻, 2号, pp. 133-141, 201205
  12. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27巻, 9号, pp. 1158-1163, 201208
  13. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14巻, 20140107
  14. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13巻, 3号, pp. 528-532, 201307
  15. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126巻, 6号, pp. 699-704, 201309
  16. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34巻, 1号, pp. 58-63, 201402
  17. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34巻, 1号, pp. 64-70, 201402
  18. Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia, JOURNAL OF THE NEUROLOGICAL SCIENCES, 337巻, 1-2号, pp. 219-223, 20140215
  19. Effect of carba mylcholine, thrombin on amyloid precursor protein mRNA expression(共著), Canadian Journal of Neurological Science, 20巻, S4号, pp. S203, 19930401
  20. Cloning and expression of a human glutamate transporter(共著), 生化的生物物理学的研究報告集, 199巻, 1号, pp. 171-176, 19940401
  21. CILIARY NEUROTROPHIC FACTOR INDUCED-INCREASE IN β-AMYLOID PRECUSUR PROTEIN mRNA IN RAT C6 GLIOMA CELLS(共著), 生化的生物物理学的研究報告集, 204巻, 1号, pp. 391-398, 19940401
  22. Inhibition by folded isomers of L-2-(carboxycyclopropyl)glycine of gtutamate uptake via human glutamate transporter hGluT-1. (共著), Eur. J. Pharm, 289巻, 2号, pp. 387-390, 19950401
  23. Localization of the gene (SLC1A3) for the human glutanate transporter (GluT-1) to 5p13 by fluorescence in situ hybridization. (共著), Cytogenetics and Cell Genetics, 69巻, 3-4号, pp. 209-210, 19950401
  24. Localization of the gene encoding human glutamate transporter (GLT-1) to11P11. 2-p13 by fluorescence in situ hybridization. (共著), Human Genetics, 97巻, 3号, pp. 387-389, 19960401
  25. Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues. (共著), Molecular Brain Research, 36巻, pp. 189-192, 19960401
  26. Machado-Joseph Disease : A proposal of spastic paraplagic subtype. (共著), Neurology, 46巻, pp. 846-847, 19960401
  27. Reevaluation of exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing condations and long PCR. (共著), Human Genetics, 97巻, pp. 91-595, 19960401
  28. Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221巻, pp. 199-204, 19960401
  29. Serum deprivation alters the expression and the splicing of at exon 7,8, and 15 of the β-amyloid precoursor protein in the C6 glioma cell line.(共著), Molecular Brain Research, 39巻, 1号, pp. 12-22, 19960401
  30. 日内変動を呈する常染色体劣性若年発症パーキンソニズム-臨床像の検討-。(共著), 臨床神経学, 36巻, 8号, pp. 944-950, 19960401
  31. Coagulation and vascular abnormalities in Crow-Fukase syndrome.(共著), Muscle & Nerve, 20巻, 4号, pp. 486-492, 19970401
  32. 著明な末梢神経障害を呈したミトコンドリアサイトパチーの3例.(共著), 臨床脳波, 39巻, 3号, pp. 193-196, 19970401
  33. A new mitochondrial DNA mutation associated with mitochondrial myopathy : tRNA Leu(UUR)3254C-to-G(共著), Neurology, 49巻, 2号, pp. 598-600, 19970401
  34. Structure and organization of the gene encoding human dopamine transporter. (共著), Gene, 195巻, 1号, pp. 11-18, 19970401
  35. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55巻, 1号, pp. 33-37, 19980401
  36. A necropsied case of Machado-Joseph disease with a hyperintence signal of transverse pontine fibers on long TR sequences of magnetic resonance images. (共著), J Neurol Neurosurg Psychiatry, 64巻, 1号, pp. 140-141, 19980401
  37. Effect of amino acid ergot alkaloids on glutamate transporter HGluT-1. (共著), J Neurological Science, 155巻, 1号, pp. 31-36, 19980401
  38. Spinocerebellar ataxia type6 : MRI of three Japanese patients. (共著), Neuroradiology, 40巻, 4号, pp. 222-227, 19980401
  39. 脊髄小脳変性症、ことにMachado-Joseph病と痴呆, Dementia Japan, 11巻, 3号, pp. 242-2447, 19970401
  40. グルタミン酸トランスポーターと神経細胞死(共著), 化学と生物, 35巻, 10号, pp. 722-723, 19970401
  41. 広島県における筋萎縮性側索硬化症の地域診療ネットワークの構築。(共著), 広島医学, 50巻, 12号, pp. 1087-1091, 19970401
  42. Spinocerebellar ataxia type 6 : MRI of three Japanese patients. (共著), Neuroradiology, 40巻, 4号, pp. 222-227, 19980401
  43. No association between apolipoprotein E alleles and olivopontocerebellar atrophy. (共著), J Neurological Science, 158巻, 1号, pp. 110-112, 19980401
  44. HLA and T-cell receptor gene polymorphisms in Guillain-Barr(]E85EE[) syndrome. (共著), Neurology, 51巻, 2号, pp. 379-384, 19980401
  45. 喫煙効果のみられた若年発症parkinsonismで悪性症候群を呈した1例.(共著), 神経内科, 49巻, pp. 43-47, 19980401
  46. 若年発症パーキンソニズムにおけるニコチンガムの効果.(共著), 神経治療学, 15巻, pp. 395-399, 19980401
  47. Characteristic magnetic resonance findings in Spinocerebellar ataxia type 6(SCA6). (共著), Archives of Neurology., 55巻, 10号, pp. 1348-1352, 19980401
  48. Genetic contribution of Tumor Necrotic Factoer(TNF)region in Guillain-Barr(]E85EE[) Syndrome. (共著), Annals of Neurology, 44巻, 5号, pp. 815-818, 19980401
  49. Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy. (共著), Am J Neuroradiol Nov-Dec, 19巻, 10号, pp. 1904, 19980401
  50. 広島県における遺伝性脊髄小脳変性症の他府県との比較-とくにSCA6について-.(共著), 広島医学, 51巻, pp. 1454-1459, 19980401
  51. Spinocerebellar type 6(SCA6)(共著), 神経内科, 49巻, 9号, pp. 238-242, 19980401
  52. -神経-トピックス;パーキンソン症候群(共著), 最新医学, 53巻, 10号, pp. 228-233, 19980401
  53. グルタミン酸トランスポーターと神経疾患, 神経研究の進歩, 42巻, 6号, pp. 903-909, 19980401
  54. Organization of the human orphan nuclear receptor Nurrl gene. (共著), Gene, 230巻, 2号, pp. 225-232, 19990401
  55. Spinocerebellar ataxia type 6 in relation to CAG repeat length. (共著), Acta Neurol Scand, 99巻, 4号, pp. 209-212, 19990401
  56. Identification and analyis of the promoter region of the human neuroD-related factor(NDRF). (共著), Biochim= Biophys. Acta, 1445巻, 1号, pp. 142-147, 19990401
  57. CACNL 1A4のCAGリピートの著明な伸張を認めたにもかかわらず、家族歴を明らかにし得なったspinpcerebellar ataxia 6(SCA6)の1例.(共著), 脳と神経, 51巻, 2号, pp. 167-170, 19990401
  58. Direct Alteration of the P/Q-Type Ca2+Channel Property by Polyglutamine Expansion in Spinocerebellar Ataxia 6(共著), J. Neurosci., 19巻, pp. RC14, 19990401
  59. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1. (共著), J Med Genet, 36巻, 7号, pp. 546-548, 19990401
  60. Variation in the number of CAG repeats in the Machado-Joseph disease gene(MJD1)in the Japanese population. (共著), J Neurol Sci Jun 15, 166巻, 1号, pp. 71-73, 19990401
  61. SCA6の電気生理学的検討(共著), 日本臨床, 57巻, 4号, pp. 120-124, 19990401
  62. Assignment of Neurod1 to rat chromosome 3 band 3q24-q32 and mouse chromosome 2 band 2E2-E3 by in situ hybridization. (共著), Cytogenetics and Cell Genetics, 86巻, 3-4号, pp. 325-325, 19990401
  63. Effects of nerve growth factor and nicotine on the expression of nicotinic acethlcholine receptor subunits in PC12 cells. (共著), Neuroscience Research, 35巻, 3号, pp. 175-181, 19990401
  64. Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer’s disease. (共著), J Neurol Neurosurg Psychiatry, 68巻, 5号, pp. 653-656, 20000401
  65. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson’s disease., Ann Neurol., 47巻, 4号, pp. 528-531, 20000401
  66. Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approch. (共著), NeuroReport, 11巻, pp. 969-972, 20000401
  67. ドーパミントランスポーター遺伝子とParkinson病, ドーパミン 最新の話題, pp. 47-57, 20000401
  68. エストロゲン受容体α遺伝子多型の転写活性およびアルツハイマー病への関与の検討, 自律神経, 37巻, 2号, pp. 251-255, 20000401
  69. 中国・四国地方における遺伝性脊髄小脳変性症の特異性, 神経内科, 53巻, pp. 127-129, 20000401
  70. 神経系疾患の遺伝子学 臨床遺伝子学, 最新医学 9月増刊号, 55巻, pp. 2142-2154, 20000901
  71. Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer’s disease.(共著), J Neurol Neurosurg Psychiatry, 68巻, 5号, pp. 653-656, 20000401
  72. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson’s disease.(共著), Ann Neurol., 47巻, 4号, pp. 528-31, 20000401
  73. Tumor necrotic factor(TNF), TNF receptors type 1 and 2, lymphotoxin-a, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I(HTLV-I)-associated myelopathy(HAM).(共著), Human Immunology, 61巻, 12号, pp. 1262-1269, 20000401
  74. Genetic studies in Parkinson’s disease with an alpha-synuclein/NACP gene polymorphism in Japan.(共著), Neurosci. Lett., 300巻, 2号, pp. 125-127, 20010401
  75. Lack of an association between cystatin C gene polymorphism in Japanese patients with Alzheimer’s disease(共著), Neurology, 57巻, 2号, pp. 337-9, 20010401
  76. Spinocerebellar ataxia type 8(SCA8)(共著), 脳と神経, 53巻, 1号, pp. 34-40, 20010401
  77. 多発性硬化症急性増悪期における自律神経機能の検討(共著), 自律神経, 38巻, pp. 32-37, 20010401
  78. Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approach., NeuroReport, 11巻, 5号, pp. 969-972, 20000401
  79. Therapeutic effects of nicotine in early-onset parkinsonism with diurnal fluctuation, Clinical Neurophysiology, 110巻, Supple 1号, pp. S233, 19990401
  80. Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)-clinical and pathological characteristics., Movement disorders 11: 191, 11巻, pp. 191, 19960401
  81. グルタミン酸輸送蛋白を介する細胞死の防御, 62巻, pp. 1281-1283, 19970401
  82. グルタミン酸輸送蛋白と神経細胞死, 36巻, 12号, pp. 1316-1317, 19961201
  83. グルタミン酸輸送蛋白を介する細胞死の防御, 61巻, pp. 1252-1255, 19960401
  84. L-2-(carboxycyclopropyl)glycineによるグルタミン酸トランスポーターを介したグルタミン酸逆行性輸送の抑制作用, 18巻, pp. 382-387, 19960401
  85. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 24巻, 2号, pp. 79-81, 20010601
  86. Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells., Neurosci. Res., 35巻, 3号, pp. 175-181, 19991201
  87. Lack of an association between cystatin C gene polymorphism in Japanese patients with Alzheimer’s disease, Neurology, 57巻, 2号, pp. 337-339, 20010701
  88. Influence of inetrleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6(SCA6), Neurosci. Lett., 307巻, 2号, pp. 128-130, 20010701
  89. Genetic studies in Parkinson’s disease with an alpha-synuclein/NACP gene polymorphism in Japan, Neurosci. Lett., 300巻, 2号, pp. 125-127, 20010301
  90. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach., NeuroReport, 11巻, 5号, pp. 969-72, 20000401
  91. Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer’s disease., J Neurol Neurosurg Psychiatry, 68巻, 5号, pp. 653-6, 20000601
  92. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson’s disease., Ann Neurol., 47巻, 4号, pp. 528-31, 20000401
  93. Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy., Hum Immunol., 61巻, 12号, pp. 1262-9, 20001201
  94. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease., Arch Neurol, 57巻, 2号, pp. 236-240, 20000201
  95. Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells., Neurosci. Res., 35巻, 3号, pp. 175-81, 19991201
  96. Assignment of Neurod1 to rat chromosome 3 band 3q24-->q32 and mouse chromosome 2 band 2E2-E3 by in situ hybridization., Cytogenet Cell Genet, 86巻, 3-4号, pp. 325-326, 19991101
  97. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)., J Med Genet, 36巻, 7号, pp. 546-8., 19990701
  98. Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population, J. Neurol. Sci., 166巻, 1号, pp. 71-3, 19990601
  99. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69巻, 2号, pp. 223-231, 19990601
  100. Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6., J. Neurosci., 19巻, 12号, pp. RC14, 19990701
  101. Spinocerebellar ataxia type 6 in relation to CAG repeat length., Acta Neurol Scand, 99巻, 4号, pp. 209-12, 19990401
  102. Organization of the human orphan nuclear receptor Nurr1 gene., Gene, 230巻, 2号, pp. 225-32., 19990401
  103. Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)1, Biochim= Biophys. Acta, 1445巻, 1号, pp. 142-7, 19990401
  104. Apolipoprotein E promoter polymorphism and sporadic Alzheimer’s disease in a Japanese population., Neurosci. Lett., 259巻, 1号, pp. 56-58, 19990401
  105. HLA-DRB1 and tumor necrosis factor gene polymorphisms in Japanese patients with multiple sclerosis., J Neuroimmuno, 92巻, 1-2号, pp. 109-12., 19980401
  106. Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome., Ann Neurol., 44巻, 5号, pp. 815-8, 19980401
  107. Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6., Arch Neurol, 55巻, 10号, pp. 1348-52, 19980401
  108. HLA and T-cell receptor gene polymorphisms in Guillain-Barre syndrome., Neurology, 51巻, 2号, pp. 379-84, 19980401
  109. No association between apolipoprotein E alleles and olivopontocerebellar atrophy., J. Neurol. Sci., 158巻, 1号, pp. 110-2, 19980401
  110. Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy., AJNR Am J Neuroradiol, 19巻, 10号, pp. 1904, 19980401
  111. Spinocerebellar ataxia type 6: MRI of three Japanese patients., Neuroradiology, 40巻, 4号, pp. 222-7, 19980401
  112. Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1., J. Neurol. Sci., 155巻, 6号, pp. 31-6, 19980401
  113. A necropsied case of Machado-Joseph disease with a hyperintense signal of transverse pontine fibres on long TR sequences of magnetic resonance images., J Neurol Neurosurg Psychiatry, 64巻, 1号, pp. 140-1, 19980401
  114. Structure and organization of the gene encoding human dopamine transporter., Gene, 195巻, 1号, pp. 11-8, 19970401
  115. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G., Neurology, 49巻, 2号, pp. 598-600, 19970401
  116. CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152巻, 2号, pp. 166-171, 19970201
  117. ★, Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6巻, 8号, pp. 1283-1287, 19970401
  118. Coagulation and vascular abnormalities in Crow-Fukase syndrome., Muscle Nerve, 20巻, 4号, pp. 486-92, 19970401
  119. Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia., Neurology, 48巻, 4号, pp. 1087-1090, 19970401
  120. Cytokines and myelin antibodies in Crow-Fukase syndrome., Muscle Nerve, 19巻, 12号, pp. 1620-2, 19960401
  121. Serum deprivation alters the expression and the splicing at exons 7, 8 and 15 of the beta-amyloid precursor protein in the C6 glioma cell line., Brain Res Mol Brain Res, 39巻, 1-2号, pp. 12-22, 19960401
  122. Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR., Hum.Genet., 97巻, 5号, pp. 591-595, 19960501
  123. Cloning and expression of a rat brain basic helix-loop-helix factor., Biochem. Biophys. Res. Commun., 221巻, 1号, pp. 199-204., 19960401
  124. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46巻, 4号, pp. 1154-1156, 19960401
  125. Molecular cloning and characterization of a cDNA encoding a novel basic helix-loop-helix protein structurally related to Neuro-D/BHF1., Biochem. Biophys. Res. Commun., 220巻, 3号, pp. 754-758, 19960401
  126. Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2-p13 by fluorescence in situ hybridization., Hum.Genet., 97巻, 3号, pp. 387-9, 19960401
  127. Machado-Joseph disease: A proposal of spastic paraplegic subtype., Neurology, 46巻, 3号, pp. 846-7, 19960401
  128. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60巻, 3号, pp. 354-356, 19960301
  129. Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues., Brain Res Mol Brain Res, 36巻, 1号, pp. 189-92, 19960401
  130. Neuroprotective mechanism of bromocriptine., Lancet, 346巻, 8985号, pp. 1305, 19950401
  131. Inhibition by folded isomers of L-2-(carboxycyclopropyl)glycine of glutamate uptake via the human glutamate transporter hGluT-1., Eur. J. Pharmacol., 289巻, 2号, pp. 387-90, 19950401
  132. ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4巻, 5号, pp. 807-812, 19950401
  133. Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9巻, 4号, pp. 344-345, 19950401
  134. Localization of the gene (SLC1A3) encoding human glutamate transporter (GluT-1) to 5p13 by fluorescence in situ hybridization., Cytogenet Cell Genet, 69巻, 3-4号, pp. 209-10, 19950401
  135. ★, CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1., Nat Genet, 8巻, 3号, pp. 221-8, 19940401
  136. Ciliary neurotrophic factor induced-increase in beta-amyloid precursor protein mRNA in rat C6 glioma cells., Biochem. Biophys. Res. Commun., 204巻, 1号, pp. 391-8, 19940401
  137. ★, Cloning and expression of a human glutamate transporter., Biochem. Biophys. Res. Commun., 199巻, 1号, pp. 171-6, 19940401
  138. HLAs and genes in Japanese patients with multiple sclerosis: evidence for increased frequencies of HLA-Cw3, HLA-DR2, and HLA-DQB1*0602., Hum Immunol., 35巻, 2号, pp. 116-24., 19920401
  139. Structural organization and expression of the gene for bovine myosin I heavy chain., J. Biochem. (Tokyo), 111巻, 3号, pp. 302-9., 19920401
  140. Generation of transgenic mice with elevated blood pressure by introduction of the rat renin and angiotensinogen genes., Proc. Natl. Acad. Sci. USA, 87巻, 3号, pp. 5153-7., 19900401
  141. 広島県における筋萎縮性側索硬化症の地域診療ネットワークの構築., 広島医学, 50巻, 12号, pp. 1087-1091, 19971201
  142. 広島大学医学部附属病院第三内科におけるHTLV-1 associated myelopathy(HAM) の臨床的検討., 広島医学, 48巻, pp. 393-400, 19950401
  143. Influence of polymorphisms in the genes for cytokines and glutathione S-transferase omega on sporadic Alzheimer’s disease, Neurosci. Lett., 368巻, 2号, pp. 140-143, 20040901
  144. Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations, Clin Neurophysiol, 115巻, 7号, pp. 1624-1630, 20040701
  145. Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer’s disease, Am J Med Genet, 124巻, B(1)号, pp. 48-49, 20040101
  146. Influence of monocyte chemoattractant protein 1 (MCP-1) gene polymorphism on age at onset of sporadic Parkinson’s disease, Mov. Disord., 18巻, 8号, pp. 953-955, 20030801
  147. Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (hTLV-I) provirus load in HTLV-I asymptomatic carriers, Hum Immunol., 64巻, 4号, pp. 453-457, 20030401
  148. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, Neurology, 56巻, 9号, pp. 923-926, 20020601
  149. 難治性で長期経過した慢性炎症性脱髄性多発根ニューロパチーに対する免疫グロブリン療法の効果., 神経治療学, 18巻, pp. 247-252, 20010401
  150. 脳梗塞の予知・予防対策の充実:浮上する遺伝的リスク., 治療学, 37巻, pp. 14-18, 20030401
  151. Mutant protein kinase C gamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death., J. Biol. Chem., 280巻, pp. 29096-29106, 20050401
  152. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy., Neuroscience Leteers, 374巻, 2号, pp. 218-221, 20050201
  153. Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NeuroReport, 16巻, 2号, pp. 145-148, 20050201
  154. Glutathione-S-transferase-1 and interleukin-1beta gene polymorphisms in Japanese patients with Parkinson’s disease., Movement Disorders, 20巻, 7号, pp. 901-902, 20050701
  155. Brain-derived neurotrophic factor gene polymorphisms in Japanese patients with sporadic Alzheimer’s disease, Parkinson’s disease, and multiple system atrophy., Movement Disorders, 2005巻, 8号, 20050801
  156. Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death., J. Biol. Chem., 280巻, 32号, pp. 29096-29106, 20050801
  157. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neurosci. Lett., 414巻, 1号, pp. 71-74, 20070201
  158. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population., Retina, 26巻, 9号, pp. 985-987, 20060901
  159. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats., Neurology, 67巻, 8号, pp. 1479-1481, 20060401
  160. Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson’s disease: a large-scale international study., Lancet Neurol., 5巻, 11号, pp. 917-923, 20061101
  161. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease., JAMA, 296巻, 6号, pp. 661-670, 20060801
  162. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease., Neurology, 67巻, 4号, pp. 697-699, 20060801
  163. High frequency of open-angle glaucoma in Japanese patients with Alzheimer’s disease., J. Neurol. Sci., 246巻, 1-2号, pp. 79-83, 20060701
  164. Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy., Mov. Disord., 17巻, 4号, pp. 808-811, 20020701
  165. Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy., Hum Immunol., 63巻, 8号, pp. 696-700, 20020801
  166. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients., Am J Med Genet, 114巻, 5号, pp. 578-583, 20020701
  167. Effects of nicotine chewing gum on UPDRS score and P300 in early-onset parkinsonism., Hiroshima J. Med. Sci., 51巻, 1号, pp. 33-39, 20020401
  168. Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer’s disease., Neurosci. Lett., 320巻, 1-2号, pp. 105-107, 20020301
  169. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 224号, pp. 79-81, 20010601
  170. 8月6日入市被爆者白血病の発生増加, 長崎医学会雑誌, 81巻, pp. 245-249, 20060925
  171. Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death, The Journal of Biological Chemistry, 280巻, 32号, pp. 29096-29106, 20050812
  172. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414巻, 1号, pp. 71-74, 20070227
  173. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4., Mov Disord., 21巻, pp. 1355-1360, 20060401
  174. Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma., J Neurological Sci, 250巻, pp. 167-169, 20061201
  175. Activation of human SII cortex during exploratory finger movement and hand clenching tasks., NeuroReport, 16巻, pp. 145-148, 20050401
  176. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population, Retina, 26巻, 9号, pp. 985-987, 20061101
  177. 浮上する遺伝的リスク, 治療学, 37巻, pp. 14-18, 20030401
  178. Possible Reduced Penetrance of Expansion of 44 to 47 CAG/CAA Repeats in the TATA-Binding Protein Gene in Spinocerebellar Ataxia Type 17., Arch Neurol, 61巻, pp. 209-212, 20040401
  179. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, Neurosci Lett, 358巻, pp. 107-110, 20040401
  180. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, Arch Neurol, 61巻, 6号, pp. 933-937, 20040601
  181. Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations., Clin Neurophysiol, 115巻, pp. 1624-1630, 20040401
  182. The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia, Journal of the Neurological Sciences, 266巻, pp. 180-181, 20080201
  183. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neuroscinece Letters, 414巻, pp. 71-74, 20070101
  184. Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?, European Journal of Human Genetics, 16巻, 7号, pp. 841-847, 20080701
  185. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414巻, 1号, pp. 71-74, 20070201
  186. 遺伝性脊髄小脳変性症6型(SCA&)の発症前診断, 治療学, 43巻, 3号, pp. 332-334, 20090301
  187. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, Journal of the Neurological Sciences, 284巻, pp. 69-71, 20090820
  188. SCA8 repeat expansion-large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6., American Journal of Human Genetics, 72巻, pp. 704-709, 20030401
  189. Machado-Joseph病, Clinical Neuroscience, 13巻, pp. 1336-1337, 19950401
  190. Machado-Joseph病の分子遺伝学, 日本臨床, 54巻, pp. 854-860, 19960401
  191. 脊髄小脳変性症の最新の話題4.Spinocerebellar ataxia type 8 (SCA8), 脳と神経, 53巻, pp. 34-40, 20010401
  192. 孤発性アルツハイマー病の連鎖解析、相関解析, 老年精神医学雑誌, 14巻, pp. 1361-1364, 20030401
  193. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, J Neurol Sci, 246巻, pp. 79-83, 20060701
  194. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease., Nature Genetics, 41巻, 12号, pp. 1303-1307, 20091201
  195. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, J Neurol Sci., 15巻, 284号, pp. 69-71, 20090501
  196. LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease., Mov Disord., 24巻, 7号, pp. 1034-41, 20090501
  197. 家族性ALSの新規原因遺伝子Optineurin, 医学のあゆみ, 235巻, 3号, pp. 227-230, 20101001
  198. 広島原爆被爆者コホートにおける被爆時所在地に基づく死亡危険度地図作成の試み, 長崎医学会雑誌, 85巻, 原爆特集号号, pp. 185-188, 20100901
  199. Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease., Acta Neuropathologica, 121巻, 4号, pp. 555-557, 20110401
  200. 広島原爆被爆者コホートにおける被爆時所在地に基づく死亡危険度地図作成の試み, 長崎医学会雑誌, 85巻, 特集号号, pp. 185-188, 20100901
  201. The UCHL1 polymorphism and parkinson's disease in a Japanese population, Parkinsonism and Related Disorders, 17巻, pp. 473-475, 20110701
  202. OPTNの生理機能とALSにおける病態, Clinical Neuroscience, 29巻, 9号, pp. 1038-1039, 20110901
  203. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60巻, 3号, pp. 63-66, 20110901
  204. Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series, Journal of Medical Case Reports, 5巻, 12号, pp. 573, 20111201
  205. 新たな原因遺伝子Optineurin, 脳21, 15巻, 1号, pp. 16-21, 20120101
  206. 筋萎縮性側索硬化症の新規原因遺伝子optineurin, 神経内科, 76巻, 3号, pp. 255-260, 20120301
  207. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80巻, 2号, pp. 600-601, 20130201
  208. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2巻, 1号, pp. 35-39, 20130301
  209. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28巻, 4号, pp. 557-559, 20130401
  210. 広島原爆被爆者コホート1970~2010年におけるリスク地図の推定., 広島医学, 65巻, pp. 255-258, 20120101
  211. Investigation on circular asymmetry of geographical distribution of mortality risk in Hiroshima atomic bomb survivors, IPSHU English Research Report Series, 28巻, pp. 57-65, 20120401
  212. 広島原爆被爆者における直爆被爆線量では説明できないリスクの地理分布について, 長崎医学会雑誌, 87巻, pp. 176-180, 20120901
  213. 広島原爆被爆者における黒い雨降雨地域の死亡危険度について, 長崎医学会雑誌, 87巻, pp. 186-190, 20120901
  214. 広島入市被爆者の死亡リスクに関する統計解析, 長崎医学会雑誌, 87巻, pp. 261-264, 20120901
  215. オプチニューリン機能異常を基盤としたALSの発症機序, 医学のあゆみ, 247巻, 12,13号, pp. 1248, 20131201
  216. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40巻, 2号, pp. 231-236, 20140201
  217. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85巻, 3号, pp. 296-297, 20140301
  218. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29巻, 2号, pp. 278-280, 20140201
  219. ALS12 (optineurin), 別冊日本臨床, 27巻, pp. 496-499, 20140301
  220. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease, ARCHIVES OF NEUROLOGY, 57巻, 2号, pp. 236-240, 200002
  221. Tumor necrosis factor, tumor necrosis factor receptors type 1 and 2, lymphotoxin-alpha, and HLA-DRB1 gene polymorphisms in human T-cell lymphotropic virus type I associated myelopathy, HUMAN IMMUNOLOGY, 61巻, 12号, pp. 1262-1269, 200012
  222. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease, ANNALS OF NEUROLOGY, 47巻, 4号, pp. 528-531, 200004
  223. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach, NEUROREPORT, 11巻, 5号, pp. 969-972, 20000407
  224. Cerebral white matter lesions are not associated with apoE genotype but with age and female sex in Alzheimer's disease, JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 68巻, 5号, pp. 653-656, 200005
  225. Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan, NEUROSCIENCE LETTERS, 300巻, 2号, pp. 125-127, 20010309
  226. Influence of interleukin-1 beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6 (SCA6) in Japanese patients, NEUROSCIENCE LETTERS, 307巻, 2号, pp. 128-130, 20010713
  227. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57巻, 2号, pp. 337-339, 20010724
  228. Nicotinic acetylcholine receptors and neurodegenerative disease, ALCOHOL, 24巻, 2号, pp. 79-81, 200106
  229. Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 320巻, 1-2号, pp. 105-107, 20020301
  230. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients, AMERICAN JOURNAL OF MEDICAL GENETICS, 114巻, 5号, pp. 578-583, 20020708
  231. Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17巻, 4号, pp. 808-811, 200207
  232. Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy, HUMAN IMMUNOLOGY, 63巻, 8号, pp. 696-700, 200208
  233. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, NEUROLOGY, 59巻, 6号, pp. 923-926, 20020924
  234. SCA8 repeat expansion: Large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6, AMERICAN JOURNAL OF HUMAN GENETICS, 72巻, 3号, pp. 704-709, 200303
  235. Influence of cytokine and mannose binding protein gene polymorphisms on human T-cell leukemia virus type I (HTLV-I) provirus load in HTLV-I asymptomatic carriers, HUMAN IMMUNOLOGY, 64巻, 4号, pp. 453-457, 200304
  236. Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease, MOVEMENT DISORDERS, 18巻, 8号, pp. 953-955, 200308
  237. Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17, ARCHIVES OF NEUROLOGY, 61巻, 2号, pp. 209-212, 200402
  238. Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NEUROREPORT, 16巻, 2号, pp. 145-148, 20050208
  239. Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer's disease, AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 124B巻, 1号, pp. 48-49, 20040101
  240. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358巻, 2号, pp. 107-110, 20040325
  241. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61巻, 6号, pp. 933-937, 200406
  242. Disinhibition of the somatosensory cortex in cervical dystonia - decreased amplitudes of high-frequency oscillations, CLINICAL NEUROPHYSIOLOGY, 115巻, 7号, pp. 1624-1630, 200407
  243. Influence of polymorphisms in the genes for cytokines and glutathione S-transferase omega on sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 368巻, 2号, pp. 140-143, 20040923
  244. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy, NEUROSCIENCE LETTERS, 374巻, 3号, pp. 218-221, 20050221
  245. Glutathione-S-transferase-1 and interleukin-1 beta gene polymorphisms in Japanese patients with Parkinson's disease, MOVEMENT DISORDERS, 20巻, 7号, pp. 901-902, 200507
  246. Brain-derived neurotrophic factor gene polymorphisms in Japanese patients with sporadic Alzheimer's disease, Parkinson's disease, and multiple system atrophy, MOVEMENT DISORDERS, 20巻, 8号, pp. 1031-1033, 200508
  247. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 246巻, 1-2号, pp. 79-83, 20060715
  248. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 296巻, 6号, pp. 661-670, 20060809
  249. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67巻, 4号, pp. 697-699, 20060822
  250. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4, MOVEMENT DISORDERS, 21巻, 9号, pp. 1355-1360, 200609
  251. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats, NEUROLOGY, 67巻, 8号, pp. 1479-1481, 20061024
  252. Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study, LANCET NEUROLOGY, 5巻, 11号, pp. 917-923, 200611
  253. Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma, JOURNAL OF THE NEUROLOGICAL SCIENCES, 250巻, 1-2号, pp. 167-169, 20061201
  254. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414巻, 1号, pp. 71-74, 20070227
  255. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population, RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 26巻, 9号, pp. 985-987, 2006
  256. Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?, EUROPEAN JOURNAL OF HUMAN GENETICS, 16巻, 7号, pp. 841-847, 200807
  257. Aortic Pulse Wave Velocity Predicts Cardiovascular Mortality in Middle-Aged and Elderly Japanese Men, CIRCULATION JOURNAL, 73巻, 3号, pp. 549-553, 200903
  258. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284巻, 1-2号, pp. 69-71, 20090915
  259. Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465巻, 7295号, pp. 223-U109, 20100513
  260. Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement, JOURNAL OF CHILD NEUROLOGY, 25巻, 11号, pp. 1429-1434, 201011
  261. A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data, BMC BIOINFORMATICS, 11巻, 20101015
  262. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17巻, 6号, pp. 473-475, 201107
  263. Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients, PLOS ONE, 6巻, 9号, 20110920
  264. An autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation, AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 15巻, 3-4号, pp. 305-308, 201406
  265. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35巻, 7号, 201407
  266. Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?, MOVEMENT DISORDERS, 29巻, 7号, pp. 921-927, 201406
  267. Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells, CELL REPORTS, 10巻, 4号, pp. 537-550, 20150203
  268. A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state, NEUROPATHOLOGY, 34巻, 5号, pp. 504-509, 201410
  269. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83巻, 22号, pp. 2054-2061, 20141125
  270. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia, MOLECULAR BRAIN, 8巻, 20151229
  271. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, Neuroscience Letters, 505巻, 3号, pp. 279-281, 2011
  272. Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis, NATURE COMMUNICATIONS, 7巻, 201608
  273. Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs, CELL REPORTS, 17巻, 6号, pp. 1482-1490, 20161101
  274. Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis., Neurology, 84巻, 11号, pp. 1070-1071, 20150317
  275. Multicenter Study of Intravenous Recombinant Tissue Plasminogen Activator Infusion around Hiroshima, Japan: The Hiroshima Acute Stroke Retrospective and Prospective Registry Study., J Stroke Cerebrovasc Dis., 24巻, 12号, pp. 2747-2753, 201512
  276. Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women, HYPERTENSION RESEARCH, 40巻, 2号, pp. 207-211, 201702
  277. First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China, PLOS ONE, 12巻, 5号, 20170519
  278. PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation, HUMAN MOLECULAR GENETICS, 26巻, 22号, pp. 4429-4440, 20171115
  279. Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease, BRAIN AND BEHAVIOR, 8巻, 1号, 201801
  280. Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 77巻, 2号, pp. 128-138, 201802
  281. Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2巻, 2014
  282. RELATIVE BIOLOGICAL EFFECTIVENESS OF NEUTRONS DERIVED FROM THE EXCESS RELATIVE RISK MODEL WITH THE ATOMIC BOMB SURVIVORS DATA MANAGED BY HIROSHIMA UNIVERSITY, RADIATION PROTECTION DOSIMETRY, 180巻, 1-4号, pp. 346-350, 201808
  283. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39巻, 1号, pp. 47-53, 201902
  284. Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations, EUROPEAN JOURNAL OF NEUROLOGY, 26巻, 3号, pp. 506-512, 201903
  285. Characteristics of 5015 Salivary Gland Neoplasms Registered in the Hiroshima Tumor Tissue Registry over a Period of 39 Years, JOURNAL OF CLINICAL MEDICINE, 8巻, 5号, 201905
  286. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia, JOURNAL OF HUMAN GENETICS, 65巻, 4号, pp. 363-369, 202004
  287. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report, BMC MEDICAL GENETICS, 21巻, 1号, 20200331
  288. Optineurin regulates osteoblastogenesis through STAT1, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 525巻, 4号, pp. 889-894, 20200514
  289. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6巻, 1号, 202002
  290. Using global team science to identify genetic parkinson's disease worldwide, Annals of neurology, 86巻, 2号, pp. 153-157, 20190801
  291. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of Neurological Science, 396巻, 1号, pp. 119-120, 20190115
  292. Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report., BMC Neurology, 19巻, 1号, pp. 168, 20190718
  293. Aggressive periodontitis and NOD2 variants, JOURNAL OF HUMAN GENETICS, 65巻, 10号, pp. 841-846, 202010
  294. The first Japanese case of primary familial brain calcification caused by an MYORG variant, JOURNAL OF HUMAN GENETICS, 65巻, 10号, pp. 917-920, 202010
  295. Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel Ca(V)3.1 caused by a mutation responsible for spinocerebellar ataxia, MOLECULAR BRAIN, 13巻, 1号, 20201226
  296. Kv11 (ether-a-go-go-related gene) voltage-dependent K+ channels promote resonance and oscillation of subthreshold membrane potentials, JOURNAL OF PHYSIOLOGY-LONDON, 599巻, 2号, pp. 547-569, 202101
  297. Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease, CLINICAL NEUROLOGY AND NEUROSURGERY, 201巻, 202102
  298. An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy, NEUROPATHOLOGY, 41巻, 2号, pp. 118-126, 202104
  299. Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells, ANNALS OF NEUROLOGY, 89巻, 6号, pp. 1226-1233, 202106
  300. Optineurin defects cause TDP43-pathology with autophagic vacuolar formation, NEUROBIOLOGY OF DISEASE, 148巻, 202101
  301. Analysis of genetic risk factors in Japanese patients with Parkinson's disease, JOURNAL OF HUMAN GENETICS, 66巻, 10号, pp. 957-964, 202110
  302. Prospects and status of the dosimetry system for atomic bomb survivor cohort study conducted at Research Institute for Radiation Biology and Medicine of Hiroshima University, JOURNAL OF RADIATION RESEARCH, 62巻, pp. I107-I113, 202104
  303. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report, BMC NEUROLOGY, 21巻, 1号, 20211012
  304. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions, DIFFERENTIATION, 123巻, pp. 1-8, 2022

招待講演、口頭・ポスター発表等

  1. ノバルティス老化および老年医学研究基金1998年度受賞者講演 アルツハイマー病に関するグルタミン酸輸送蛋白の分子生物学的研究, 川上 秀史, 第42回日本老年医学会学術集会, 2000年06月, 招待, 日本語
  2. ドーパミントランスポーター遺伝子とパーキンソン病, 川上 秀史, 第3回神経伝達物質研究会, 1999年11月, 招待, 日本語
  3. ドーパミントランスポーターとパーキンソン病, 川上 秀史, 第42回日本神経化学会総会, 1999年09月, 招待, 日本語
  4. 神経疾患とトランスポーターーとくに、ドーパミン、グルタミン酸トランスポーター (DAT、GT) についてー, 川上 秀史, 第21回日本神経科学第41回日本神経化学合同大会, 1998年09月, 招待, 日本語
  5. トランスポーターと神経変性疾患, 川上 秀史, 第39回日本神経学会総会, 1998年05月, 招待, 日本語
  6. 神経疾患診断・治療に対する分子生物学的アプローチ, 川上 秀史, 第46回広島医学会総会, 1993年08月, 招待, 日本語

外部資金

競争的資金等の採択状況

  1. 科学研究費助成事業(基盤研究(A)), 筋萎縮性側索硬化症の新規原因遺伝子の同定と解析, 2021年, 2024年
  2. 難治性疾患実用化研究事業, 変異OPTN病態解明と新規動物モデル開発, 2015年04月01日, 2016年03月31日
  3. 民間からの助成金, 筋萎縮性側索硬化症の分子遺伝学的研究, 2010年
  4. 神経変性疾患に関する調査研究, 2011年
  5. 神経変性疾患に関する調査研究, 2012年
  6. 科学研究費助成事業(基盤研究(A)), 遺伝学的アプローチによる小脳機能障害の解明, 2014年, 2017年
  7. 科学研究費助成事業(基盤研究(A)), 若齢期放射線被曝による晩発障害に関する社会医学的研究, 2012年, 2014年
  8. 科学研究費助成事業(新学術領域研究(研究領域提案型)), オプチニューリン遺伝子異常による脳内環境の変化と神経変性の関わりの解明, 2011年, 2015年
  9. 科学研究費助成事業(基盤研究(C)), ホモ接合ハプロタイプ法による侵襲性歯周炎の疾患関連遺伝子同定, 2011年, 2013年
  10. 科学研究費助成事業(挑戦的萌芽研究), 新たな遺伝学手法による未知の脊髄小脳変性症遺伝子探索, 2011年, 2012年
  11. 科学研究費助成事業(挑戦的萌芽研究), 劣性遺伝解析による侵襲性歯周炎関連遺伝子の同定, 2011年, 2012年
  12. 科学研究費助成事業(基盤研究(C)), ALSにおけるOptineurinの神経細胞毒性に関する分子メカニズムの解明, 2011年, 2013年
  13. 科学研究費助成事業(基盤研究(A)), 原爆被爆者の後障害に関する社会医学的研究, 2009年, 2011年
  14. 科学研究費助成事業(基盤研究(B)), 常染色体劣性脊髄小脳変性症の新規遺伝子, 2007年, 2009年
  15. 科学研究費助成事業(基盤研究(C)), CAGリピートの伸長した新規遺伝子の脊髄小脳失調症への関与, 2006年, 2007年
  16. 科学研究費助成事業(基盤研究(B)), Neurogenesis制御や神経幹細胞補充による虚血性脳損傷修復法の確立, 2004年, 2005年
  17. 科学研究費助成事業(基盤研究(C)), SCA8遺伝子におけるCTA/CTGリピート伸長の病的意義についての検討, 2004年, 2005年
  18. 科学研究費助成事業(特定領域研究), 高密度マイクロサテライトマーカーによるパーキンソン病関連遺伝子の同定, 2003年, 2003年
  19. 科学研究費助成事業(特定領域研究), 高密度マイクロサテライトマーカーによるパーキンソン病関連遺伝子の同定, 2002年, 2002年
  20. 科学研究費助成事業(基盤研究(C)), パーキンソン病発症危険因子としてのトランスポーター遺伝子多型, 2000年, 2001年
  21. 科学研究費助成事業(特定領域研究(A)), 神経細胞死予防のためのグルタミン酸・ドーパミン輸送蛋白の研究, 2000年, 2000年
  22. 科学研究費助成事業(特定領域研究(A)), 神経細胞死予防のためのグルタミン酸・ドーパミン輸送蛋白の研究, 1999年, 1999年
  23. 科学研究費助成事業(基盤研究(B)), グルタミン酸輸送蛋白を介する神経変性疾患治療薬の開発, 1998年, 2000年
  24. 科学研究費助成事業(特定領域研究(A)), 神経細胞死予防のためのグルタミン酸輸送蛋白の薬理学的研究, 1998年, 1998年
  25. 科学研究費助成事業(重点領域研究), 神経変性疾患におけるグルタミン酸輸送蛋白の薬理学的研究, 1997年, 1997年
  26. 科学研究費助成事業(基盤研究(B)), パーキンソン病の分子遺伝学的研究, 1997年, 1998年
  27. 科学研究費助成事業(基盤研究(C)), Machado-Joseph病原因遺伝子MJD1の発現に関する研究, 1996年, 1996年
  28. 科学研究費助成事業(奨励研究(A)), アルツハイマー病患者脳におけるグルタミン酸トランスポーターの研究, 1995年, 1995年
  29. 科学研究費助成事業(奨励研究(A)), アルツハイマー病患者剖検脳におけるグルタミン酸トランスポーターmRNAの変化, 1994年, 1994年
  30. 科学研究費助成事業(一般研究(B)), 若年発症パーキンソニスムについての臨床的、病理学的、分子生物学的研究, 1994年, 1995年
  31. 厚生労働科学研究, 筋萎縮性側索硬化症(ALS)新規治療法開発をめざした病態解明, 2014年06月02日, 2015年03月31日
  32. 科学研究費助成事業(特別研究員奨励費), iPS細胞小脳分化系とモデルマウスを用いた脊髄小脳変性症発症機構の解明, 2016年, 2018年
  33. 科学研究費助成事業(挑戦的萌芽研究), ヒト一倍体細胞を用いた遺伝子トラップ法によるTDP-43関連遺伝子の同定, 2016年, 2017年
  34. 科学研究費助成事業(基盤研究(C)), 家族性侵襲性歯周炎の関連遺伝子同定と病態解析, 2015年, 2018年
  35. 難治性疾患実用化研究事業, 筋委縮性側索硬化症(ALS)新規治療法開発をめざした病態解明, 2016年04月01日, 2017年03月31日

社会活動

委員会等委員歴

  1. 難治疾患研究所教員活動評価専門委員会外部委員, 2013年09月, 2013年09月, 東京医科歯科大学
  2. 非常勤医師, 2013年04月, 2014年03月, (医)楽生会馬場病院
  3. 非常勤医師, 2013年04月, 2014年03月, (医)全仁会倉敷平成病院
  4. 腫瘍登録実務委員会委員, 2012年04月, 2014年03月, 広島県医師会
  5. 評議員, 2012年04月, 2014年03月, (財)広島県地域保健医療推進機構