Hideshi Kawakami

Last Updated :2025/01/07

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. 2024, Undergraduate Education, Intensive, Practice for medical research
  2. 2024, Graduate Education (Master's Program) , First Semester, Seminar
  3. 2024, Graduate Education (Master's Program) , Second Semester, Seminar
  4. 2024, Graduate Education (Master's Program) , First Semester, Research
  5. 2024, Graduate Education (Master's Program) , Second Semester, Research
  6. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
  7. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
  8. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research
  9. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
  10. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Molecular Epidemiology
  11. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Molecular Epidemiology
  12. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Molecular Epidemiology
  13. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Molecular Epidemiology
  14. 2024, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science

Research Activities

Academic Papers

  1. C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan, JOURNAL OF THE NEUROLOGICAL SCIENCES, 466, 20241115
    Link to Paper Search Results by DOI
  2. Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation, MOVEMENT DISORDERS CLINICAL PRACTICE, 11(6), 720-727, 202406
    Link to Paper Search Results by DOI
  3. Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families, JBMR PLUS, 8(6), 20240430
    Link to Paper Search Results by DOI
  4. An autopsy case of sporadic, adult-onset amyotrophic lateral sclerosis with heterozygous p.N1935S SETX gene variant, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 82(8), 734-738, 20230720
    Link to Paper Search Results by DOI
  5. 'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy, BRAIN COMMUNICATIONS, 5(6), 20231101
    Link to Paper Search Results by DOI
  6. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, AMERICAN JOURNAL OF HUMAN GENETICS, 110(7), 1086-1097, 20230706
    Link to Paper Search Results by DOI
  7. Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection, PLOS ONE, 18(6), 20230623
    Link to Paper Search Results by DOI
  8. Mapping Genes Related to Early Onset Major Depressive Disorder in Dagestan Genetic Isolates, TURK PSIKIYATRI DERGISI, 23(3), 161-170, 2012
  9. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 10(1), 20221207
    Link to Paper Search Results by DOI
  10. Comparison of two families with and without ataxia harboring novel variants in PRKCG, JOURNAL OF HUMAN GENETICS, 67(10), 595-599, 202210
    Link to Paper Search Results by DOI
  11. TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis, JAMA NEUROLOGY, 79(7), 693-701, 202207
    Link to Paper Search Results by DOI
  12. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
    Link to Paper Search Results by DOI
  13. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
    Link to Paper Search Results by DOI
  14. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 201110
    Link to Paper Search Results by DOI
  15. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, 20111121
    Link to Paper Search Results by DOI
  16. 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
    Link to Paper Search Results by DOI
  17. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
    Link to Paper Search Results by DOI
  18. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14, 20140107
    Link to Paper Search Results by DOI
  19. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
    Link to Paper Search Results by DOI
  20. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
    Link to Paper Search Results by DOI
  21. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
    Link to Paper Search Results by DOI
  22. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
    Link to Paper Search Results by DOI
  23. 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
    Link to Paper Search Results by DOI
  24. Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221, 199-204, 19960401
  25. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
  26. Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approach., NeuroReport, 11(5), 969-972, 20000401
  27. Therapeutic effects of nicotine in early-onset parkinsonism with diurnal fluctuation, Clinical Neurophysiology, 110(Supple 1), S233, 19990401
  28. Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)-clinical and pathological characteristics., Movement disorders 11: 191, 11, 191, 19960401
  29. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 24(2), 79-81, 20010601
  30. 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
  31. Influence of inetrleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6(SCA6), Neurosci. Lett., 307(2), 128-130, 20010701
  32. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach., NeuroReport, 11(5), 969-72, 20000401
  33. 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
  34. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease., Arch Neurol, 57(2), 236-240, 20000201
  35. 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
  36. 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
  37. 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
  38. 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
  39. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
  40. Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6., J. Neurosci., 19(12), RC14, 19990701
  41. Spinocerebellar ataxia type 6 in relation to CAG repeat length., Acta Neurol Scand, 99(4), 209-12, 19990401
  42. Organization of the human orphan nuclear receptor Nurr1 gene., Gene, 230(2), 225-32., 19990401
  43. Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)1, Biochim= Biophys. Acta, 1445(1), 142-7, 19990401
  44. HLA-DRB1 and tumor necrosis factor gene polymorphisms in Japanese patients with multiple sclerosis., J Neuroimmuno, 92(1-2), 109-12., 19980401
  45. Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome., Ann Neurol., 44(5), 815-8, 19980401
  46. Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6., Arch Neurol, 55(10), 1348-52, 19980401
  47. HLA and T-cell receptor gene polymorphisms in Guillain-Barre syndrome., Neurology, 51(2), 379-84, 19980401
  48. No association between apolipoprotein E alleles and olivopontocerebellar atrophy., J. Neurol. Sci., 158(1), 110-2, 19980401
  49. Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy., AJNR Am J Neuroradiol, 19(10), 1904, 19980401
  50. Spinocerebellar ataxia type 6: MRI of three Japanese patients., Neuroradiology, 40(4), 222-7, 19980401
  51. Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1., J. Neurol. Sci., 155(6), 31-6, 19980401
  52. 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
  53. Structure and organization of the gene encoding human dopamine transporter., Gene, 195(1), 11-8, 19970401
  54. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G., Neurology, 49(2), 598-600, 19970401
  55. CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152(2), 166-171, 19970201
  56. ★, Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6(8), 1283-1287, 19970401
  57. Coagulation and vascular abnormalities in Crow-Fukase syndrome., Muscle Nerve, 20(4), 486-92, 19970401
  58. 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
  59. Cytokines and myelin antibodies in Crow-Fukase syndrome., Muscle Nerve, 19(12), 1620-2, 19960401
  60. 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
  61. 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
  62. Cloning and expression of a rat brain basic helix-loop-helix factor., Biochem. Biophys. Res. Commun., 221(1), 199-204., 19960401
  63. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 1154-1156, 19960401
  64. 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
  65. 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
  66. Machado-Joseph disease: A proposal of spastic paraplegic subtype., Neurology, 46(3), 846-7, 19960401
  67. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
  68. Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues., Brain Res Mol Brain Res, 36(1), 189-92, 19960401
  69. Neuroprotective mechanism of bromocriptine., Lancet, 346(8985), 1305, 19950401
  70. 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
  71. ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
  72. Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9(4), 344-345, 19950401
  73. 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
  74. ★, CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1., Nat Genet, 8(3), 221-8, 19940401
  75. 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
  76. ★, Cloning and expression of a human glutamate transporter., Biochem. Biophys. Res. Commun., 199(1), 171-6, 19940401
  77. 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
  78. Structural organization and expression of the gene for bovine myosin I heavy chain., J. Biochem. (Tokyo), 111(3), 302-9., 19920401
  79. 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
  80. Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations, Clin Neurophysiol, 115(7), 1624-1630, 20040701
  81. 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
  82. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, Neurology, 56(9), 923-926, 20020601
  83. 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
  84. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy., Neuroscience Leteers, 374(2), 218-221, 20050201
  85. Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NeuroReport, 16(2), 145-148, 20050201
  86. 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
  87. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neurosci. Lett., 414(1), 71-74, 20070201
  88. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population., Retina, 26(9), 985-987, 20060901
  89. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats., Neurology, 67(8), 1479-1481, 20060401
  90. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease., JAMA, 296(6), 661-670, 20060801
  91. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease., Neurology, 67(4), 697-699, 20060801
  92. Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy., Mov. Disord., 17(4), 808-811, 20020701
  93. Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy., Hum Immunol., 63(8), 696-700, 20020801
  94. 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
  95. Effects of nicotine chewing gum on UPDRS score and P300 in early-onset parkinsonism., Hiroshima J. Med. Sci., 51(1), 33-39, 20020401
  96. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 79-81, 20010601
  97. High incidence of Leukemia among entrants on 6th August, Nagasaki Medical Journal, 81, 245-249, 20060925
  98. 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
  99. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414(1), 71-74, 20070227
  100. 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
  101. Activation of human SII cortex during exploratory finger movement and hand clenching tasks., NeuroReport, 16, 145-148, 20050401
  102. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population, Retina, 26(9), 985-987, 20061101
  103. 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
  104. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, Neurosci Lett, 358, 107-110, 20040401
  105. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, Arch Neurol, 61(6), 933-937, 20040601
  106. Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations., Clin Neurophysiol, 115, 1624-1630, 20040401
  107. The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia, Journal of the Neurological Sciences, 266, 180-181, 20080201
  108. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neuroscinece Letters, 414, 71-74, 20070101
  109. 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
  110. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414(1), 71-74, 20070201
  111. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, Journal of the Neurological Sciences, 284, 69-71, 20090820
  112. 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
  113. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, J Neurol Sci, 246, 79-83, 20060701
  114. 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
  115. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, J Neurol Sci., 15(284), 69-71, 20090501
  116. LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease., Mov Disord., 24(7), 1034-41, 20090501
  117. A new causative gene: optineurin for familial ALS, Journal of Clinical and Experimental Medicine, 235(3), 227-230, 20101001
  118. 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
  119. The UCHL1 polymorphism and parkinson's disease in a Japanese population, Parkinsonism and Related Disorders, 17, 473-475, 20110701
  120. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
  121. 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
  122. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
  123. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
  124. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
  125. Investigation on circular asymmetry of geographical distribution of mortality risk in Hiroshima atomic bomb survivors, IPSHU English Research Report Series, 28, 57-65, 20120401
  126. Pathomechanisms of ALS based on optineurin dysfuncton, Journal of Clinical and Experimental Medicine, 247(12,13), 1248, 20131201
  127. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
  128. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
  129. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
  130. ALS12 (optineurin), 27, 496-499, 20140301
  131. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease, ARCHIVES OF NEUROLOGY, 57(2), 236-240, 200002
    Link to Paper Search Results by DOI
  132. 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
    Link to Paper Search Results by DOI
  133. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease, ANNALS OF NEUROLOGY, 47(4), 528-531, 200004
    Link to Paper Search Results by DOI
  134. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach, NEUROREPORT, 11(5), 969-972, 20000407
    Link to Paper Search Results by DOI
  135. 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
    Link to Paper Search Results by DOI
  136. Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan, NEUROSCIENCE LETTERS, 300(2), 125-127, 20010309
    Link to Paper Search Results by DOI
  137. 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
    Link to Paper Search Results by DOI
  138. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57(2), 337-339, 20010724
    Link to Paper Search Results by DOI
  139. Nicotinic acetylcholine receptors and neurodegenerative disease, ALCOHOL, 24(2), 79-81, 200106
    Link to Paper Search Results by DOI
  140. Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 320(1-2), 105-107, 20020301
    Link to Paper Search Results by DOI
  141. 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
    Link to Paper Search Results by DOI
  142. Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17(4), 808-811, 200207
    Link to Paper Search Results by DOI
  143. Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy, HUMAN IMMUNOLOGY, 63(8), 696-700, 200208
    Link to Paper Search Results by DOI
  144. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, NEUROLOGY, 59(6), 923-926, 20020924
    Link to Paper Search Results by DOI
  145. 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
    Link to Paper Search Results by DOI
  146. 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
    Link to Paper Search Results by DOI
  147. Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease, MOVEMENT DISORDERS, 18(8), 953-955, 200308
    Link to Paper Search Results by DOI
  148. 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
    Link to Paper Search Results by DOI
  149. Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NEUROREPORT, 16(2), 145-148, 20050208
    Link to Paper Search Results by DOI
  150. 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
    Link to Paper Search Results by DOI
  151. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358(2), 107-110, 20040325
    Link to Paper Search Results by DOI
  152. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61(6), 933-937, 200406
    Link to Paper Search Results by DOI
  153. Disinhibition of the somatosensory cortex in cervical dystonia - decreased amplitudes of high-frequency oscillations, CLINICAL NEUROPHYSIOLOGY, 115(7), 1624-1630, 200407
    Link to Paper Search Results by DOI
  154. 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
    Link to Paper Search Results by DOI
  155. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy, NEUROSCIENCE LETTERS, 374(3), 218-221, 20050221
    Link to Paper Search Results by DOI
  156. Glutathione-S-transferase-1 and interleukin-1 beta gene polymorphisms in Japanese patients with Parkinson's disease, MOVEMENT DISORDERS, 20(7), 901-902, 200507
    Link to Paper Search Results by DOI
  157. 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
    Link to Paper Search Results by DOI
  158. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 246(1-2), 79-83, 20060715
    Link to Paper Search Results by DOI
  159. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 296(6), 661-670, 20060809
    Link to Paper Search Results by DOI
  160. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67(4), 697-699, 20060822
    Link to Paper Search Results by DOI
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