川上 秀史Hideshi Kawakami
Last Updated :2024/12/10
- 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
研究分野
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
- 2024年, 学部専門, 集中, 医学研究実習
- 2024年, 修士課程・博士課程前期, セメスター(前期), 特別演習
- 2024年, 修士課程・博士課程前期, セメスター(後期), 特別演習
- 2024年, 修士課程・博士課程前期, セメスター(前期), 特別研究
- 2024年, 修士課程・博士課程前期, セメスター(後期), 特別研究
- 2024年, 博士課程・博士課程後期, セメスター(前期), 特別演習
- 2024年, 博士課程・博士課程後期, セメスター(後期), 特別演習
- 2024年, 博士課程・博士課程後期, セメスター(前期), 特別研究
- 2024年, 博士課程・博士課程後期, セメスター(後期), 特別研究
- 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
- 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
- 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
- 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
- 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)
- C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan, JOURNAL OF THE NEUROLOGICAL SCIENCES, 466巻, 20241115
- Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation, MOVEMENT DISORDERS CLINICAL PRACTICE, 11巻, 6号, pp. 720-727, 202406
- Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families, JBMR PLUS, 8巻, 6号, 20240430
- An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 82巻, 8号, pp. 734-738, 20230720
- 'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy, BRAIN COMMUNICATIONS, 5巻, 6号, 20231101
- CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, AMERICAN JOURNAL OF HUMAN GENETICS, 110巻, 7号, pp. 1086-1097, 20230706
- Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection, PLOS ONE, 18巻, 6号, 20230623
- Mapping Genes Related to Early Onset Major Depressive Disorder in Dagestan Genetic Isolates, TURK PSIKIYATRI DERGISI, 23巻, 3号, pp. 161-170, 2012
- Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 10巻, 1号, 20221207
- 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
- TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis, JAMA NEUROLOGY, 79巻, 7号, pp. 693-701, 202207
- LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24巻, 7号, pp. 1034-1041, 20090515
- Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122巻, 2号, pp. 223-229, 201108
- Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32巻, 10号, 201110
- 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
- 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
- The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27巻, 9号, pp. 1158-1163, 201208
- Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14巻, 20140107
- Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13巻, 3号, pp. 528-532, 201307
- Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126巻, 6号, pp. 699-704, 201309
- An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34巻, 1号, pp. 58-63, 201402
- Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34巻, 1号, pp. 64-70, 201402
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Machado-Joseph Disease : A proposal of spastic paraplagic subtype. (共著), Neurology, 46巻, pp. 846-847, 19960401
- 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
- Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221巻, pp. 199-204, 19960401
- 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
- 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
- Coagulation and vascular abnormalities in Crow-Fukase syndrome.(共著), Muscle & Nerve, 20巻, 4号, pp. 486-492, 19970401
- 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
- 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
- Structure and organization of the gene encoding human dopamine transporter. (共著), Gene, 195巻, 1号, pp. 11-18, 19970401
- Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55巻, 1号, pp. 33-37, 19980401
- 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
- Effect of amino acid ergot alkaloids on glutamate transporter HGluT-1. (共著), J Neurological Science, 155巻, 1号, pp. 31-36, 19980401
- Spinocerebellar ataxia type6 : MRI of three Japanese patients. (共著), Neuroradiology, 40巻, 4号, pp. 222-227, 19980401
- 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
- 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
- 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
- Spinocerebellar ataxia type 6 : MRI of three Japanese patients. (共著), Neuroradiology, 40巻, 4号, pp. 222-227, 19980401
- No association between apolipoprotein E alleles and olivopontocerebellar atrophy. (共著), J Neurological Science, 158巻, 1号, pp. 110-112, 19980401
- HLA and T-cell receptor gene polymorphisms in Guillain-Barr(]E85EE[) syndrome. (共著), Neurology, 51巻, 2号, pp. 379-384, 19980401
- 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
- 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
- Characteristic magnetic resonance findings in Spinocerebellar ataxia type 6(SCA6). (共著), Archives of Neurology., 55巻, 10号, pp. 1348-1352, 19980401
- 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
- Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy. (共著), Am J Neuroradiol Nov-Dec, 19巻, 10号, pp. 1904, 19980401
- 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
- Spinocerebellar type 6(SCA6)(共著), 神経内科, 49巻, 9号, pp. 238-242, 19980401
- -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
- 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
- Organization of the human orphan nuclear receptor Nurrl gene. (共著), Gene, 230巻, 2号, pp. 225-232, 19990401
- Spinocerebellar ataxia type 6 in relation to CAG repeat length. (共著), Acta Neurol Scand, 99巻, 4号, pp. 209-212, 19990401
- 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
- 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
- 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
- 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
- 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
- SCA6の電気生理学的検討(共著), 日本臨床, 57巻, 4号, pp. 120-124, 19990401
- 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
- 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
- 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
- A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson’s disease., Ann Neurol., 47巻, 4号, pp. 528-531, 20000401
- Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approch. (共著), NeuroReport, 11巻, pp. 969-972, 20000401
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- Spinocerebellar ataxia type 8(SCA8)(共著), 脳と神経, 53巻, 1号, pp. 34-40, 20010401
- 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
- Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approach., NeuroReport, 11巻, 5号, pp. 969-972, 20000401
- Therapeutic effects of nicotine in early-onset parkinsonism with diurnal fluctuation, Clinical Neurophysiology, 110巻, Supple 1号, pp. S233, 19990401
- Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)-clinical and pathological characteristics., Movement disorders 11: 191, 11巻, pp. 191, 19960401
- 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
- グルタミン酸輸送蛋白と神経細胞死, 36巻, 12号, pp. 1316-1317, 19961201
- 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
- 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
- Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 24巻, 2号, pp. 79-81, 20010601
- 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
- 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
- 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
- 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
- Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach., NeuroReport, 11巻, 5号, pp. 969-72, 20000401
- 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
- A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson’s disease., Ann Neurol., 47巻, 4号, pp. 528-31, 20000401
- 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
- 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
- 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
- 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
- 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
- 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
- Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69巻, 2号, pp. 223-231, 19990601
- 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
- Spinocerebellar ataxia type 6 in relation to CAG repeat length., Acta Neurol Scand, 99巻, 4号, pp. 209-12, 19990401
- Organization of the human orphan nuclear receptor Nurr1 gene., Gene, 230巻, 2号, pp. 225-32., 19990401
- 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
- Apolipoprotein E promoter polymorphism and sporadic Alzheimer’s disease in a Japanese population., Neurosci. Lett., 259巻, 1号, pp. 56-58, 19990401
- 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
- Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome., Ann Neurol., 44巻, 5号, pp. 815-8, 19980401
- Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6., Arch Neurol, 55巻, 10号, pp. 1348-52, 19980401
- HLA and T-cell receptor gene polymorphisms in Guillain-Barre syndrome., Neurology, 51巻, 2号, pp. 379-84, 19980401
- No association between apolipoprotein E alleles and olivopontocerebellar atrophy., J. Neurol. Sci., 158巻, 1号, pp. 110-2, 19980401
- Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy., AJNR Am J Neuroradiol, 19巻, 10号, pp. 1904, 19980401
- Spinocerebellar ataxia type 6: MRI of three Japanese patients., Neuroradiology, 40巻, 4号, pp. 222-7, 19980401
- 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
- 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
- Structure and organization of the gene encoding human dopamine transporter., Gene, 195巻, 1号, pp. 11-8, 19970401
- A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G., Neurology, 49巻, 2号, pp. 598-600, 19970401
- 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
- ★, Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6巻, 8号, pp. 1283-1287, 19970401
- Coagulation and vascular abnormalities in Crow-Fukase syndrome., Muscle Nerve, 20巻, 4号, pp. 486-92, 19970401
- 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
- Cytokines and myelin antibodies in Crow-Fukase syndrome., Muscle Nerve, 19巻, 12号, pp. 1620-2, 19960401
- 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
- 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
- Cloning and expression of a rat brain basic helix-loop-helix factor., Biochem. Biophys. Res. Commun., 221巻, 1号, pp. 199-204., 19960401
- A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46巻, 4号, pp. 1154-1156, 19960401
- 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
- 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
- Machado-Joseph disease: A proposal of spastic paraplegic subtype., Neurology, 46巻, 3号, pp. 846-7, 19960401
- Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60巻, 3号, pp. 354-356, 19960301
- 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
- Neuroprotective mechanism of bromocriptine., Lancet, 346巻, 8985号, pp. 1305, 19950401
- 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
- ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4巻, 5号, pp. 807-812, 19950401
- Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9巻, 4号, pp. 344-345, 19950401
- 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
- ★, CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1., Nat Genet, 8巻, 3号, pp. 221-8, 19940401
- 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
- ★, Cloning and expression of a human glutamate transporter., Biochem. Biophys. Res. Commun., 199巻, 1号, pp. 171-6, 19940401
- 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
- Structural organization and expression of the gene for bovine myosin I heavy chain., J. Biochem. (Tokyo), 111巻, 3号, pp. 302-9., 19920401
- 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
- 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
- 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
- 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
- Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations, Clin Neurophysiol, 115巻, 7号, pp. 1624-1630, 20040701
- 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
- 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
- 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
- Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, Neurology, 56巻, 9号, pp. 923-926, 20020601
- 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
- 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
- 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
- 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
- Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NeuroReport, 16巻, 2号, pp. 145-148, 20050201
- 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
- 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
- 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
- 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
- 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
- Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats., Neurology, 67巻, 8号, pp. 1479-1481, 20060401
- 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
- Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease., JAMA, 296巻, 6号, pp. 661-670, 20060801
- Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease., Neurology, 67巻, 4号, pp. 697-699, 20060801
- 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
- Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy., Mov. Disord., 17巻, 4号, pp. 808-811, 20020701
- 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
- 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
- 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
- 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
- Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 224号, pp. 79-81, 20010601
- 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
- 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
- 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
- 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
- Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma., J Neurological Sci, 250巻, pp. 167-169, 20061201
- Activation of human SII cortex during exploratory finger movement and hand clenching tasks., NeuroReport, 16巻, pp. 145-148, 20050401
- 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
- 浮上する遺伝的リスク, 治療学, 37巻, pp. 14-18, 20030401
- 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
- A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, Neurosci Lett, 358巻, pp. 107-110, 20040401
- Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, Arch Neurol, 61巻, 6号, pp. 933-937, 20040601
- Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations., Clin Neurophysiol, 115巻, pp. 1624-1630, 20040401
- 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
- A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neuroscinece Letters, 414巻, pp. 71-74, 20070101
- 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
- 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
- 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
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, Journal of the Neurological Sciences, 284巻, pp. 69-71, 20090820
- 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
- Machado-Joseph病, Clinical Neuroscience, 13巻, pp. 1336-1337, 19950401
- Machado-Joseph病の分子遺伝学, 日本臨床, 54巻, pp. 854-860, 19960401
- 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
- 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
- High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, J Neurol Sci, 246巻, pp. 79-83, 20060701
- 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
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, J Neurol Sci., 15巻, 284号, pp. 69-71, 20090501
- LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease., Mov Disord., 24巻, 7号, pp. 1034-41, 20090501
- 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
- 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
- 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
- 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
- The UCHL1 polymorphism and parkinson's disease in a Japanese population, Parkinsonism and Related Disorders, 17巻, pp. 473-475, 20110701
- OPTNの生理機能とALSにおける病態, Clinical Neuroscience, 29巻, 9号, pp. 1038-1039, 20110901
- 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
- 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
- 新たな原因遺伝子Optineurin, 脳21, 15巻, 1号, pp. 16-21, 20120101
- 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
- Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80巻, 2号, pp. 600-601, 20130201
- 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
- Oromandibular Dystonia associated with SCA36, Movement Disorders, 28巻, 4号, pp. 557-559, 20130401
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29巻, 2号, pp. 278-280, 20140201
- ALS12 (optineurin), 別冊日本臨床, 27巻, pp. 496-499, 20140301
- 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
- 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
- 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
- Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach, NEUROREPORT, 11巻, 5号, pp. 969-972, 20000407
- 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
- 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
- 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
- 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
- Nicotinic acetylcholine receptors and neurodegenerative disease, ALCOHOL, 24巻, 2号, pp. 79-81, 200106
- 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
- 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
- Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17巻, 4号, pp. 808-811, 200207
- 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
- Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, NEUROLOGY, 59巻, 6号, pp. 923-926, 20020924
- 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
- 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
- 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
- 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
- Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NEUROREPORT, 16巻, 2号, pp. 145-148, 20050208
- 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
- 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
- Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61巻, 6号, pp. 933-937, 200406
- Disinhibition of the somatosensory cortex in cervical dystonia - decreased amplitudes of high-frequency oscillations, CLINICAL NEUROPHYSIOLOGY, 115巻, 7号, pp. 1624-1630, 200407
- 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
- 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
- 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
- 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
- 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
- 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
- Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67巻, 4号, pp. 697-699, 20060822
- 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
- Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats, NEUROLOGY, 67巻, 8号, pp. 1479-1481, 20061024
- 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
- 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
- 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
- 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
- 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
- Aortic Pulse Wave Velocity Predicts Cardiovascular Mortality in Middle-Aged and Elderly Japanese Men, CIRCULATION JOURNAL, 73巻, 3号, pp. 549-553, 200903
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284巻, 1-2号, pp. 69-71, 20090915
- Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465巻, 7295号, pp. 223-U109, 20100513
- 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
- A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data, BMC BIOINFORMATICS, 11巻, 20101015
- The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17巻, 6号, pp. 473-475, 201107
- 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
- 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
- Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35巻, 7号, 201407
- 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
- Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells, CELL REPORTS, 10巻, 4号, pp. 537-550, 20150203
- 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
- Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83巻, 22号, pp. 2054-2061, 20141125
- 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
- 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
- Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis, NATURE COMMUNICATIONS, 7巻, 201608
- Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs, CELL REPORTS, 17巻, 6号, pp. 1482-1490, 20161101
- Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis., Neurology, 84巻, 11号, pp. 1070-1071, 20150317
- 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
- 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
- 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
- PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation, HUMAN MOLECULAR GENETICS, 26巻, 22号, pp. 4429-4440, 20171115
- 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
- Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 77巻, 2号, pp. 128-138, 201802
- Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2巻, 2014
- 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
- Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39巻, 1号, pp. 47-53, 201902
- 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
- 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
- Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia, JOURNAL OF HUMAN GENETICS, 65巻, 4号, pp. 363-369, 202004
- Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report, BMC MEDICAL GENETICS, 21巻, 1号, 20200331
- Optineurin regulates osteoblastogenesis through STAT1, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 525巻, 4号, pp. 889-894, 20200514
- Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6巻, 1号, 202002
- Using global team science to identify genetic parkinson's disease worldwide, Annals of neurology, 86巻, 2号, pp. 153-157, 20190801
- Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of Neurological Science, 396巻, 1号, pp. 119-120, 20190115
- Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report., BMC Neurology, 19巻, 1号, pp. 168, 20190718
- Aggressive periodontitis and NOD2 variants, JOURNAL OF HUMAN GENETICS, 65巻, 10号, pp. 841-846, 202010
- 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
- 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
- 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
- Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease, CLINICAL NEUROLOGY AND NEUROSURGERY, 201巻, 202102
- 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
- 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
- Optineurin defects cause TDP43-pathology with autophagic vacuolar formation, NEUROBIOLOGY OF DISEASE, 148巻, 202101
- Analysis of genetic risk factors in Japanese patients with Parkinson's disease, JOURNAL OF HUMAN GENETICS, 66巻, 10号, pp. 957-964, 202110
- 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
- FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report, BMC NEUROLOGY, 21巻, 1号, 20211012
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 神経変性疾患に関する調査研究, 2011年
- 神経変性疾患に関する調査研究, 2012年
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 非常勤医師, 2013年04月, 2014年03月, (医)楽生会馬場病院
- 非常勤医師, 2013年04月, 2014年03月, (医)全仁会倉敷平成病院
- 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
- 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