Hideshi Kawakami

Last Updated :2024/06/05

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. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, AMERICAN JOURNAL OF HUMAN GENETICS, 110(7), 1086-1097, 20230706
  2. Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection, PLOS ONE, 18(6), 20230623
  3. Mapping Genes Related to Early Onset Major Depressive Disorder in Dagestan Genetic Isolates, TURK PSIKIYATRI DERGISI, 23(3), 161-170, 2012
  4. Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 10(1), 20221207
  5. Comparison of two families with and without ataxia harboring novel variants in PRKCG, JOURNAL OF HUMAN GENETICS, 67(10), 595-599, 202210
  6. TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis, JAMA NEUROLOGY, 79(7), 693-701, 202207
  7. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
  8. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
  9. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 201110
  10. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, 20111121
  11. Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data, RADIATION AND ENVIRONMENTAL BIOPHYSICS, 51(2), 133-141, 201205
  12. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
  13. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14, 20140107
  14. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
  15. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
  16. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
  17. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
  18. 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
  19. Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221, 199-204, 19960401
  20. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
  21. Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approach., NeuroReport, 11(5), 969-972, 20000401
  22. Therapeutic effects of nicotine in early-onset parkinsonism with diurnal fluctuation, Clinical Neurophysiology, 110(Supple 1), S233, 19990401
  23. Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)-clinical and pathological characteristics., Movement disorders 11: 191, 11, 191, 19960401
  24. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 24(2), 79-81, 20010601
  25. 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
  26. Influence of inetrleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6(SCA6), Neurosci. Lett., 307(2), 128-130, 20010701
  27. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach., NeuroReport, 11(5), 969-72, 20000401
  28. 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
  29. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease., Arch Neurol, 57(2), 236-240, 20000201
  30. 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
  31. 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
  32. 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
  33. 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
  34. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
  35. Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6., J. Neurosci., 19(12), RC14, 19990701
  36. Spinocerebellar ataxia type 6 in relation to CAG repeat length., Acta Neurol Scand, 99(4), 209-12, 19990401
  37. Organization of the human orphan nuclear receptor Nurr1 gene., Gene, 230(2), 225-32., 19990401
  38. Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)1, Biochim= Biophys. Acta, 1445(1), 142-7, 19990401
  39. HLA-DRB1 and tumor necrosis factor gene polymorphisms in Japanese patients with multiple sclerosis., J Neuroimmuno, 92(1-2), 109-12., 19980401
  40. Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome., Ann Neurol., 44(5), 815-8, 19980401
  41. Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6., Arch Neurol, 55(10), 1348-52, 19980401
  42. HLA and T-cell receptor gene polymorphisms in Guillain-Barre syndrome., Neurology, 51(2), 379-84, 19980401
  43. No association between apolipoprotein E alleles and olivopontocerebellar atrophy., J. Neurol. Sci., 158(1), 110-2, 19980401
  44. Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy., AJNR Am J Neuroradiol, 19(10), 1904, 19980401
  45. Spinocerebellar ataxia type 6: MRI of three Japanese patients., Neuroradiology, 40(4), 222-7, 19980401
  46. Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1., J. Neurol. Sci., 155(6), 31-6, 19980401
  47. 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
  48. Structure and organization of the gene encoding human dopamine transporter., Gene, 195(1), 11-8, 19970401
  49. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G., Neurology, 49(2), 598-600, 19970401
  50. CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152(2), 166-171, 19970201
  51. ★, Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6(8), 1283-1287, 19970401
  52. Coagulation and vascular abnormalities in Crow-Fukase syndrome., Muscle Nerve, 20(4), 486-92, 19970401
  53. 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
  54. Cytokines and myelin antibodies in Crow-Fukase syndrome., Muscle Nerve, 19(12), 1620-2, 19960401
  55. 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
  56. 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
  57. Cloning and expression of a rat brain basic helix-loop-helix factor., Biochem. Biophys. Res. Commun., 221(1), 199-204., 19960401
  58. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 1154-1156, 19960401
  59. 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
  60. 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
  61. Machado-Joseph disease: A proposal of spastic paraplegic subtype., Neurology, 46(3), 846-7, 19960401
  62. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
  63. Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues., Brain Res Mol Brain Res, 36(1), 189-92, 19960401
  64. Neuroprotective mechanism of bromocriptine., Lancet, 346(8985), 1305, 19950401
  65. 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
  66. ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
  67. Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9(4), 344-345, 19950401
  68. 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
  69. ★, CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1., Nat Genet, 8(3), 221-8, 19940401
  70. 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
  71. ★, Cloning and expression of a human glutamate transporter., Biochem. Biophys. Res. Commun., 199(1), 171-6, 19940401
  72. 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
  73. Structural organization and expression of the gene for bovine myosin I heavy chain., J. Biochem. (Tokyo), 111(3), 302-9., 19920401
  74. 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
  75. Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations, Clin Neurophysiol, 115(7), 1624-1630, 20040701
  76. 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
  77. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, Neurology, 56(9), 923-926, 20020601
  78. 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
  79. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy., Neuroscience Leteers, 374(2), 218-221, 20050201
  80. Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NeuroReport, 16(2), 145-148, 20050201
  81. 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
  82. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neurosci. Lett., 414(1), 71-74, 20070201
  83. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population., Retina, 26(9), 985-987, 20060901
  84. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats., Neurology, 67(8), 1479-1481, 20060401
  85. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease., JAMA, 296(6), 661-670, 20060801
  86. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease., Neurology, 67(4), 697-699, 20060801
  87. Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy., Mov. Disord., 17(4), 808-811, 20020701
  88. Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy., Hum Immunol., 63(8), 696-700, 20020801
  89. 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
  90. Effects of nicotine chewing gum on UPDRS score and P300 in early-onset parkinsonism., Hiroshima J. Med. Sci., 51(1), 33-39, 20020401
  91. Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 79-81, 20010601
  92. High incidence of Leukemia among entrants on 6th August, Nagasaki Medical Journal, 81, 245-249, 20060925
  93. 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
  94. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414(1), 71-74, 20070227
  95. 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
  96. Activation of human SII cortex during exploratory finger movement and hand clenching tasks., NeuroReport, 16, 145-148, 20050401
  97. No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population, Retina, 26(9), 985-987, 20061101
  98. 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
  99. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, Neurosci Lett, 358, 107-110, 20040401
  100. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, Arch Neurol, 61(6), 933-937, 20040601
  101. Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations., Clin Neurophysiol, 115, 1624-1630, 20040401
  102. The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia, Journal of the Neurological Sciences, 266, 180-181, 20080201
  103. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neuroscinece Letters, 414, 71-74, 20070101
  104. 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
  105. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414(1), 71-74, 20070201
  106. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, Journal of the Neurological Sciences, 284, 69-71, 20090820
  107. 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
  108. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, J Neurol Sci, 246, 79-83, 20060701
  109. 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
  110. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, J Neurol Sci., 15(284), 69-71, 20090501
  111. LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease., Mov Disord., 24(7), 1034-41, 20090501
  112. A new causative gene: optineurin for familial ALS, Journal of Clinical and Experimental Medicine, 235(3), 227-230, 20101001
  113. 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
  114. The UCHL1 polymorphism and parkinson's disease in a Japanese population, Parkinsonism and Related Disorders, 17, 473-475, 20110701
  115. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
  116. 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
  117. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
  118. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
  119. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
  120. Investigation on circular asymmetry of geographical distribution of mortality risk in Hiroshima atomic bomb survivors, IPSHU English Research Report Series, 28, 57-65, 20120401
  121. Pathomechanisms of ALS based on optineurin dysfuncton, Journal of Clinical and Experimental Medicine, 247(12,13), 1248, 20131201
  122. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
  123. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
  124. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
  125. ALS12 (optineurin), 27, 496-499, 20140301
  126. Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease, ARCHIVES OF NEUROLOGY, 57(2), 236-240, 200002
  127. 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
  128. A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease, ANNALS OF NEUROLOGY, 47(4), 528-531, 200004
  129. Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach, NEUROREPORT, 11(5), 969-972, 20000407
  130. 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
  131. Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan, NEUROSCIENCE LETTERS, 300(2), 125-127, 20010309
  132. 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
  133. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57(2), 337-339, 20010724
  134. Nicotinic acetylcholine receptors and neurodegenerative disease, ALCOHOL, 24(2), 79-81, 200106
  135. Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 320(1-2), 105-107, 20020301
  136. 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
  137. Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17(4), 808-811, 200207
  138. Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy, HUMAN IMMUNOLOGY, 63(8), 696-700, 200208
  139. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, NEUROLOGY, 59(6), 923-926, 20020924
  140. 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
  141. 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
  142. Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease, MOVEMENT DISORDERS, 18(8), 953-955, 200308
  143. 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
  144. Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NEUROREPORT, 16(2), 145-148, 20050208
  145. 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
  146. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358(2), 107-110, 20040325
  147. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61(6), 933-937, 200406
  148. Disinhibition of the somatosensory cortex in cervical dystonia - decreased amplitudes of high-frequency oscillations, CLINICAL NEUROPHYSIOLOGY, 115(7), 1624-1630, 200407
  149. 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
  150. Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy, NEUROSCIENCE LETTERS, 374(3), 218-221, 20050221
  151. Glutathione-S-transferase-1 and interleukin-1 beta gene polymorphisms in Japanese patients with Parkinson's disease, MOVEMENT DISORDERS, 20(7), 901-902, 200507
  152. 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
  153. High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 246(1-2), 79-83, 20060715
  154. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 296(6), 661-670, 20060809
  155. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67(4), 697-699, 20060822
  156. 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
  157. Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats, NEUROLOGY, 67(8), 1479-1481, 20061024
  158. 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
  159. 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
  160. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414(1), 71-74, 20070227
  161. 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
  162. 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
  163. Aortic Pulse Wave Velocity Predicts Cardiovascular Mortality in Middle-Aged and Elderly Japanese Men, CIRCULATION JOURNAL, 73(3), 549-553, 200903
  164. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
  165. Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-U109, 20100513
  166. Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement, JOURNAL OF CHILD NEUROLOGY, 25(11), 1429-1434, 201011
  167. A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data, BMC BIOINFORMATICS, 11, 20101015
  168. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
  169. 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
  170. An autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation, AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 15(3-4), 305-308, 201406
  171. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 201407
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