Hideshi Kawakami

Last Updated :2022/07/01

Affiliations, Positions
Research Institute for Radiation Biology and Medicine, Professor
E-mail
hkawakamhiroshima-u.ac.jp

Basic Information

Academic Degrees

  • Doctor of Philosophy in Medical Science, Kyoto University

Research Fields

  • Medicine,dentistry, and pharmacy;Clinical internal medicine;Neurology

Research Keywords

  • neurodegerative disease
  • SCA
  • optineurin
  • geneticfactor
  • triplet repeats
  • ALS

Educational Activity

Course in Charge

  1. 2022, Undergraduate Education, Intensive, Practice for medical research
  2. 2022, Graduate Education (Master's Program) , First Semester, Seminar
  3. 2022, Graduate Education (Master's Program) , Second Semester, Seminar
  4. 2022, Graduate Education (Master's Program) , First Semester, Research
  5. 2022, Graduate Education (Master's Program) , Second Semester, Research
  6. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
  7. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
  8. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Research
  9. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
  10. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Molecular Epidemiology
  11. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Molecular Epidemiology
  12. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Molecular Epidemiology
  13. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Molecular Epidemiology
  14. 2022, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science
  15. 2022, Undergraduate Education, Intensive, Practice for medical research
  16. 2022, Graduate Education (Master's Program) , First Semester, Research
  17. 2022, Graduate Education (Master's Program) , First Semester, Seminar
  18. 2022, Graduate Education (Master's Program) , Second Semester, Seminar
  19. 2022, Graduate Education (Master's Program) , Second Semester, Research
  20. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
  21. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
  22. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Research
  23. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
  24. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Molecular Epidemiology
  25. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Molecular Epidemiology
  26. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Molecular Epidemiology
  27. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Molecular Epidemiology
  28. 2022, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
  2. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
  3. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 201110
  4. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, 20111121
  5. 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(2), 133-141, 201205
  6. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
  7. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14, 20140107
  8. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
  9. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
  10. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
  11. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
  12. Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia, JOURNAL OF THE NEUROLOGICAL SCIENCES, 337(1-2), 219-223, 20140215
  13. Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221, 199-204, 19960401
  14. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
  15. Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approach., NeuroReport, 11(5), 969-972, 20000401
  16. Therapeutic effects of nicotine in early-onset parkinsonism with diurnal fluctuation, Clinical Neurophysiology, 110(Supple 1), S233, 19990401
  17. Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)-clinical and pathological characteristics., Movement disorders 11: 191, 11, 191, 19960401
  18. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 24(2), 79-81, 20010601
  19. Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells., Neurosci. Res., 35(3), 175-181, 19991201
  20. Influence of inetrleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6(SCA6), Neurosci. Lett., 307(2), 128-130, 20010701
  21. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach., NeuroReport, 11(5), 969-72, 20000401
  22. 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(12), 1262-9, 20001201
  23. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease., Arch Neurol, 57(2), 236-240, 20000201
  24. Effects of nerve growth factor and nicotine on the expression of nicotinic acetylcholine receptor subunits in PC12 cells., Neurosci. Res., 35(3), 175-81, 19991201
  25. 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(3-4), 325-326, 19991101
  26. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)., J Med Genet, 36(7), 546-8., 19990701
  27. Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population, J. Neurol. Sci., 166(1), 71-3, 19990601
  28. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
  29. Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6., J. Neurosci., 19(12), RC14, 19990701
  30. Spinocerebellar ataxia type 6 in relation to CAG repeat length., Acta Neurol Scand, 99(4), 209-12, 19990401
  31. Organization of the human orphan nuclear receptor Nurr1 gene., Gene, 230(2), 225-32., 19990401
  32. Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)1, Biochim= Biophys. Acta, 1445(1), 142-7, 19990401
  33. HLA-DRB1 and tumor necrosis factor gene polymorphisms in Japanese patients with multiple sclerosis., J Neuroimmuno, 92(1-2), 109-12., 19980401
  34. Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome., Ann Neurol., 44(5), 815-8, 19980401
  35. Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6., Arch Neurol, 55(10), 1348-52, 19980401
  36. HLA and T-cell receptor gene polymorphisms in Guillain-Barre syndrome., Neurology, 51(2), 379-84, 19980401
  37. No association between apolipoprotein E alleles and olivopontocerebellar atrophy., J. Neurol. Sci., 158(1), 110-2, 19980401
  38. Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy., AJNR Am J Neuroradiol, 19(10), 1904, 19980401
  39. Spinocerebellar ataxia type 6: MRI of three Japanese patients., Neuroradiology, 40(4), 222-7, 19980401
  40. Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1., J. Neurol. Sci., 155(6), 31-6, 19980401
  41. 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(1), 140-1, 19980401
  42. Structure and organization of the gene encoding human dopamine transporter., Gene, 195(1), 11-8, 19970401
  43. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G., Neurology, 49(2), 598-600, 19970401
  44. CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152(2), 166-171, 19970201
  45. ★, Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6(8), 1283-1287, 19970401
  46. Coagulation and vascular abnormalities in Crow-Fukase syndrome., Muscle Nerve, 20(4), 486-92, 19970401
  47. Homozygosity for an allele carrying intermediate CAG repeats in the dentatorubral-pallidoluysian atrophy (DRPLA) gene results in spastic paraplegia., Neurology, 48(4), 1087-1090, 19970401
  48. Cytokines and myelin antibodies in Crow-Fukase syndrome., Muscle Nerve, 19(12), 1620-2, 19960401
  49. 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(1-2), 12-22, 19960401
  50. Reevaluation of the exact CAG repeat length in hereditary cerebellar ataxias using highly denaturing conditions and long PCR., Hum.Genet., 97(5), 591-595, 19960501
  51. Cloning and expression of a rat brain basic helix-loop-helix factor., Biochem. Biophys. Res. Commun., 221(1), 199-204., 19960401
  52. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 1154-1156, 19960401
  53. 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(3), 754-758, 19960401
  54. Localization of the gene encoding the human L-glutamate transporter (GLT-1) to 11p11.2-p13 by fluorescence in situ hybridization., Hum.Genet., 97(3), 387-9, 19960401
  55. Machado-Joseph disease: A proposal of spastic paraplegic subtype., Neurology, 46(3), 846-7, 19960401
  56. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
  57. Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues., Brain Res Mol Brain Res, 36(1), 189-92, 19960401
  58. Neuroprotective mechanism of bromocriptine., Lancet, 346(8985), 1305, 19950401
  59. Inhibition by folded isomers of L-2-(carboxycyclopropyl)glycine of glutamate uptake via the human glutamate transporter hGluT-1., Eur. J. Pharmacol., 289(2), 387-90, 19950401
  60. ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
  61. Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9(4), 344-345, 19950401
  62. Localization of the gene (SLC1A3) encoding human glutamate transporter (GluT-1) to 5p13 by fluorescence in situ hybridization., Cytogenet Cell Genet, 69(3-4), 209-10, 19950401
  63. ★, CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1., Nat Genet, 8(3), 221-8, 19940401
  64. Ciliary neurotrophic factor induced-increase in beta-amyloid precursor protein mRNA in rat C6 glioma cells., Biochem. Biophys. Res. Commun., 204(1), 391-8, 19940401
  65. ★, Cloning and expression of a human glutamate transporter., Biochem. Biophys. Res. Commun., 199(1), 171-6, 19940401
  66. 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(2), 116-24., 19920401
  67. Structural organization and expression of the gene for bovine myosin I heavy chain., J. Biochem. (Tokyo), 111(3), 302-9., 19920401
  68. Generation of transgenic mice with elevated blood pressure by introduction of the rat renin and angiotensinogen genes., Proc. Natl. Acad. Sci. USA, 87(3), 5153-7., 19900401
  69. Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations, Clin Neurophysiol, 115(7), 1624-1630, 20040701
  70. 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(4), 453-457, 20030401
  71. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, Neurology, 56(9), 923-926, 20020601
  72. Mutant protein kinase C gamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death., J. Biol. Chem., 280, 29096-29106, 20050401
  73. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy., Neuroscience Leteers, 374(2), 218-221, 20050201
  74. Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NeuroReport, 16(2), 145-148, 20050201
  75. Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death., J. Biol. Chem., 280(32), 29096-29106, 20050801
  76. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neurosci. Lett., 414(1), 71-74, 20070201
  77. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population., Retina, 26(9), 985-987, 20060901
  78. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats., Neurology, 67(8), 1479-1481, 20060401
  79. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease., JAMA, 296(6), 661-670, 20060801
  80. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease., Neurology, 67(4), 697-699, 20060801
  81. Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy., Mov. Disord., 17(4), 808-811, 20020701
  82. Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy., Hum Immunol., 63(8), 696-700, 20020801
  83. 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(5), 578-583, 20020701
  84. Effects of nicotine chewing gum on UPDRS score and P300 in early-onset parkinsonism., Hiroshima J. Med. Sci., 51(1), 33-39, 20020401
  85. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 79-81, 20010601
  86. High incidence of Leukemia among entrants on 6th August, Nagasaki Medical Journal, 81, 245-249, 20060925
  87. Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death, The Journal of Biological Chemistry, 280(32), 29096-29106, 20050812
  88. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414(1), 71-74, 20070227
  89. 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, 1355-1360, 20060401
  90. Activation of human SII cortex during exploratory finger movement and hand clenching tasks., NeuroReport, 16, 145-148, 20050401
  91. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population, Retina, 26(9), 985-987, 20061101
  92. 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, 209-212, 20040401
  93. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, Neurosci Lett, 358, 107-110, 20040401
  94. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, Arch Neurol, 61(6), 933-937, 20040601
  95. Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations., Clin Neurophysiol, 115, 1624-1630, 20040401
  96. The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia, Journal of the Neurological Sciences, 266, 180-181, 20080201
  97. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neuroscinece Letters, 414, 71-74, 20070101
  98. 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(7), 841-847, 20080701
  99. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414(1), 71-74, 20070201
  100. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, Journal of the Neurological Sciences, 284, 69-71, 20090820
  101. SCA8 repeat expansion-large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6., American Journal of Human Genetics, 72, 704-709, 20030401
  102. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, J Neurol Sci, 246, 79-83, 20060701
  103. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease., Nature Genetics, 41(12), 1303-1307, 20091201
  104. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, J Neurol Sci., 15(284), 69-71, 20090501
  105. LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease., Mov Disord., 24(7), 1034-41, 20090501
  106. A new causative gene: optineurin for familial ALS, Journal of Clinical and Experimental Medicine, 235(3), 227-230, 20101001
  107. Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease., Acta Neuropathologica, 121(4), 555-557, 20110401
  108. The UCHL1 polymorphism and parkinson's disease in a Japanese population, Parkinsonism and Related Disorders, 17, 473-475, 20110701
  109. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
  110. 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(12), 573, 20111201
  111. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
  112. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
  113. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
  114. Investigation on circular asymmetry of geographical distribution of mortality risk in Hiroshima atomic bomb survivors, IPSHU English Research Report Series, 28, 57-65, 20120401
  115. Pathomechanisms of ALS based on optineurin dysfuncton, Journal of Clinical and Experimental Medicine, 247(12,13), 1248, 20131201
  116. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
  117. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
  118. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
  119. ALS12 (optineurin), 27, 496-499, 20140301
  120. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease, ARCHIVES OF NEUROLOGY, 57(2), 236-240, 200002
  121. 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(12), 1262-1269, 200012
  122. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease, ANNALS OF NEUROLOGY, 47(4), 528-531, 200004
  123. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach, NEUROREPORT, 11(5), 969-972, 20000407
  124. 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(5), 653-656, 200005
  125. Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan, NEUROSCIENCE LETTERS, 300(2), 125-127, 20010309
  126. Influence of interleukin-1 beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6 (SCA6) in Japanese patients, NEUROSCIENCE LETTERS, 307(2), 128-130, 20010713
  127. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57(2), 337-339, 20010724
  128. Nicotinic acetylcholine receptors and neurodegenerative disease, ALCOHOL, 24(2), 79-81, 200106
  129. Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 320(1-2), 105-107, 20020301
  130. 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(5), 578-583, 20020708
  131. Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17(4), 808-811, 200207
  132. Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy, HUMAN IMMUNOLOGY, 63(8), 696-700, 200208
  133. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, NEUROLOGY, 59(6), 923-926, 20020924
  134. SCA8 repeat expansion: Large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6, AMERICAN JOURNAL OF HUMAN GENETICS, 72(3), 704-709, 200303
  135. 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(4), 453-457, 200304
  136. Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease, MOVEMENT DISORDERS, 18(8), 953-955, 200308
  137. 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(2), 209-212, 200402
  138. Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NEUROREPORT, 16(2), 145-148, 20050208
  139. 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(1), 48-49, 20040101
  140. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358(2), 107-110, 20040325
  141. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61(6), 933-937, 200406
  142. Disinhibition of the somatosensory cortex in cervical dystonia - decreased amplitudes of high-frequency oscillations, CLINICAL NEUROPHYSIOLOGY, 115(7), 1624-1630, 200407
  143. Influence of polymorphisms in the genes for cytokines and glutathione S-transferase omega on sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 368(2), 140-143, 20040923
  144. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy, NEUROSCIENCE LETTERS, 374(3), 218-221, 20050221
  145. Glutathione-S-transferase-1 and interleukin-1 beta gene polymorphisms in Japanese patients with Parkinson's disease, MOVEMENT DISORDERS, 20(7), 901-902, 200507
  146. Brain-derived neurotrophic factor gene polymorphisms in Japanese patients with sporadic Alzheimer's disease, Parkinson's disease, and multiple system atrophy, MOVEMENT DISORDERS, 20(8), 1031-1033, 200508
  147. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 246(1-2), 79-83, 20060715
  148. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 296(6), 661-670, 20060809
  149. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67(4), 697-699, 20060822
  150. 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(9), 1355-1360, 200609
  151. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats, NEUROLOGY, 67(8), 1479-1481, 20061024
  152. Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study, LANCET NEUROLOGY, 5(11), 917-923, 200611
  153. Voltage-gated potassium channel antibodies associated limbic encephalitis in a patient with invasive thymoma, JOURNAL OF THE NEUROLOGICAL SCIENCES, 250(1-2), 167-169, 20061201
  154. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414(1), 71-74, 20070227
  155. 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(9), 985-987, 2006
  156. 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(7), 841-847, 200807
  157. Aortic Pulse Wave Velocity Predicts Cardiovascular Mortality in Middle-Aged and Elderly Japanese Men, CIRCULATION JOURNAL, 73(3), 549-553, 200903
  158. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
  159. Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-U109, 20100513
  160. Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement, JOURNAL OF CHILD NEUROLOGY, 25(11), 1429-1434, 201011
  161. A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data, BMC BIOINFORMATICS, 11, 20101015
  162. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
  163. Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients, PLOS ONE, 6(9), 20110920
  164. An autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation, AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 15(3-4), 305-308, 201406
  165. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 201407
  166. Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?, MOVEMENT DISORDERS, 29(7), 921-927, 201406
  167. Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells, CELL REPORTS, 10(4), 537-550, 20150203
  168. 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(5), 504-509, 201410
  169. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 2054-2061, 20141125
  170. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia, MOLECULAR BRAIN, 8, 20151229
  171. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, Neuroscience Letters, 505(3), 279-281, 2011
  172. Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis, NATURE COMMUNICATIONS, 7, 201608
  173. Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs, CELL REPORTS, 17(6), 1482-1490, 20161101
  174. Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis., Neurology, 84(11), 1070-1071, 20150317
  175. 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(12), 2747-2753, 201512
  176. Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women, HYPERTENSION RESEARCH, 40(2), 207-211, 201702
  177. First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China, PLOS ONE, 12(5), 20170519
  178. PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation, HUMAN MOLECULAR GENETICS, 26(22), 4429-4440, 20171115
  179. Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease, BRAIN AND BEHAVIOR, 8(1), 201801
  180. Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 77(2), 128-138, 201802
  181. Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2, 2014
  182. 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(1-4), 346-350, 201808
  183. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39(1), 47-53, 201902
  184. 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(3), 506-512, 201903
  185. Characteristics of 5015 Salivary Gland Neoplasms Registered in the Hiroshima Tumor Tissue Registry over a Period of 39 Years, JOURNAL OF CLINICAL MEDICINE, 8(5), 201905
  186. Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia, JOURNAL OF HUMAN GENETICS, 65(4), 363-369, 202004
  187. Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report, BMC MEDICAL GENETICS, 21(1), 20200331
  188. Optineurin regulates osteoblastogenesis through STAT1, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 525(4), 889-894, 20200514
  189. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6(1), 202002
  190. Using global team science to identify genetic parkinson's disease worldwide, Annals of neurology, 86(2), 153-157, 20190801
  191. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of Neurological Science, 396(1), 119-120, 20190115
  192. Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report., BMC Neurology, 19(1), 168, 20190718
  193. Aggressive periodontitis and NOD2 variants, JOURNAL OF HUMAN GENETICS, 65(10), 841-846, 202010
  194. The first Japanese case of primary familial brain calcification caused by an MYORG variant, JOURNAL OF HUMAN GENETICS, 65(10), 917-920, 202010
  195. 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(1), 20201226
  196. Kv11 (ether-a-go-go-related gene) voltage-dependent K+ channels promote resonance and oscillation of subthreshold membrane potentials, JOURNAL OF PHYSIOLOGY-LONDON, 599(2), 547-569, 202101
  197. Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease, CLINICAL NEUROLOGY AND NEUROSURGERY, 201, 202102
  198. An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy, NEUROPATHOLOGY, 41(2), 118-126, 202104
  199. Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells, ANNALS OF NEUROLOGY, 89(6), 1226-1233, 202106
  200. Optineurin defects cause TDP43-pathology with autophagic vacuolar formation, NEUROBIOLOGY OF DISEASE, 148, 202101