Hideshi Kawakami
Last Updated :2023/05/10
- Affiliations, Positions
- Research Institute for Radiation Biology and Medicine, Professor
- E-mail
- hkawakam
hiroshima-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
- 2023, Undergraduate Education, Intensive, Practice for medical research
- 2023, Graduate Education (Master's Program) , First Semester, Seminar
- 2023, Graduate Education (Master's Program) , Second Semester, Seminar
- 2023, Graduate Education (Master's Program) , First Semester, Research
- 2023, Graduate Education (Master's Program) , Second Semester, Research
- 2023, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
- 2023, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
- 2023, Graduate Education (Doctoral Program) , First Semester, Advanced Research
- 2023, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
- 2023, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Molecular Epidemiology
- 2023, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Molecular Epidemiology
- 2023, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Molecular Epidemiology
- 2023, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Molecular Epidemiology
- 2023, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science
Research Activities
Academic Papers
- LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
- Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
- Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 201110
- Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 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(2), 133-141, 201205
- The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
- Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14, 20140107
- Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
- Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
- An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
- Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
- 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
- Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221, 199-204, 19960401
- Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
- Electrophysiological studies in spinocerebellar ataxia type 6 : a statistical approach., NeuroReport, 11(5), 969-972, 20000401
- Therapeutic effects of nicotine in early-onset parkinsonism with diurnal fluctuation, Clinical Neurophysiology, 110(Supple 1), S233, 19990401
- Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)-clinical and pathological characteristics., Movement disorders 11: 191, 11, 191, 19960401
- Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 24(2), 79-81, 20010601
- 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
- Influence of inetrleukin-1beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6(SCA6), Neurosci. Lett., 307(2), 128-130, 20010701
- Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach., NeuroReport, 11(5), 969-72, 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(12), 1262-9, 20001201
- Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease., Arch Neurol, 57(2), 236-240, 20000201
- 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
- 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
- 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
- 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
- Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
- Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6., J. Neurosci., 19(12), RC14, 19990701
- Spinocerebellar ataxia type 6 in relation to CAG repeat length., Acta Neurol Scand, 99(4), 209-12, 19990401
- Organization of the human orphan nuclear receptor Nurr1 gene., Gene, 230(2), 225-32., 19990401
- Identification and analysis of the promoter region of the human NeuroD-related factor (NDRF)1, Biochim= Biophys. Acta, 1445(1), 142-7, 19990401
- HLA-DRB1 and tumor necrosis factor gene polymorphisms in Japanese patients with multiple sclerosis., J Neuroimmuno, 92(1-2), 109-12., 19980401
- Genetic contribution of the tumor necrosis factor region in Guillain-Barre syndrome., Ann Neurol., 44(5), 815-8, 19980401
- Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6., Arch Neurol, 55(10), 1348-52, 19980401
- HLA and T-cell receptor gene polymorphisms in Guillain-Barre syndrome., Neurology, 51(2), 379-84, 19980401
- No association between apolipoprotein E alleles and olivopontocerebellar atrophy., J. Neurol. Sci., 158(1), 110-2, 19980401
- Dentato-rubral tract involvement in adult-onset adrenoleukodystrophy., AJNR Am J Neuroradiol, 19(10), 1904, 19980401
- Spinocerebellar ataxia type 6: MRI of three Japanese patients., Neuroradiology, 40(4), 222-7, 19980401
- Effect of amino acid ergot alkaloids on glutamate transport via human glutamate transporter hGluT-1., J. Neurol. Sci., 155(6), 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(1), 140-1, 19980401
- Structure and organization of the gene encoding human dopamine transporter., Gene, 195(1), 11-8, 19970401
- A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G., Neurology, 49(2), 598-600, 19970401
- CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152(2), 166-171, 19970201
- ★, Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6(8), 1283-1287, 19970401
- Coagulation and vascular abnormalities in Crow-Fukase syndrome., Muscle Nerve, 20(4), 486-92, 19970401
- 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
- Cytokines and myelin antibodies in Crow-Fukase syndrome., Muscle Nerve, 19(12), 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(1-2), 12-22, 19960401
- 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
- Cloning and expression of a rat brain basic helix-loop-helix factor., Biochem. Biophys. Res. Commun., 221(1), 199-204., 19960401
- A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 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(3), 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(3), 387-9, 19960401
- Machado-Joseph disease: A proposal of spastic paraplegic subtype., Neurology, 46(3), 846-7, 19960401
- Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
- Expression of three glutamate transporter subtype mRNAs in human brain regions and peripheral tissues., Brain Res Mol Brain Res, 36(1), 189-92, 19960401
- Neuroprotective mechanism of bromocriptine., Lancet, 346(8985), 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(2), 387-90, 19950401
- ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
- Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9(4), 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(3-4), 209-10, 19950401
- ★, CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1., Nat Genet, 8(3), 221-8, 19940401
- 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
- ★, Cloning and expression of a human glutamate transporter., Biochem. Biophys. Res. Commun., 199(1), 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(2), 116-24., 19920401
- Structural organization and expression of the gene for bovine myosin I heavy chain., J. Biochem. (Tokyo), 111(3), 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(3), 5153-7., 19900401
- Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations, Clin Neurophysiol, 115(7), 1624-1630, 20040701
- 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
- Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, Neurology, 56(9), 923-926, 20020601
- 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
- Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy., Neuroscience Leteers, 374(2), 218-221, 20050201
- Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NeuroReport, 16(2), 145-148, 20050201
- 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
- A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neurosci. Lett., 414(1), 71-74, 20070201
- No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population., Retina, 26(9), 985-987, 20060901
- Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats., Neurology, 67(8), 1479-1481, 20060401
- Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease., JAMA, 296(6), 661-670, 20060801
- Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease., Neurology, 67(4), 697-699, 20060801
- Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy., Mov. Disord., 17(4), 808-811, 20020701
- Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy., Hum Immunol., 63(8), 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(5), 578-583, 20020701
- Effects of nicotine chewing gum on UPDRS score and P300 in early-onset parkinsonism., Hiroshima J. Med. Sci., 51(1), 33-39, 20020401
- Nicotinic acetylcholine receptors and neurodegenerative disease., Alcohol, 79-81, 20010601
- High incidence of Leukemia among entrants on 6th August, Nagasaki Medical Journal, 81, 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(32), 29096-29106, 20050812
- A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414(1), 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, 1355-1360, 20060401
- Activation of human SII cortex during exploratory finger movement and hand clenching tasks., NeuroReport, 16, 145-148, 20050401
- No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population, Retina, 26(9), 985-987, 20061101
- 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
- A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, Neurosci Lett, 358, 107-110, 20040401
- Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, Arch Neurol, 61(6), 933-937, 20040601
- Disinhibition of the somatosensory cortex in cervical dystonia-decreased amplitudes of high-frequency oscillations., Clin Neurophysiol, 115, 1624-1630, 20040401
- The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia, Journal of the Neurological Sciences, 266, 180-181, 20080201
- A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neuroscinece Letters, 414, 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(7), 841-847, 20080701
- A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, Neuroscience Letters, 414(1), 71-74, 20070201
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, Journal of the Neurological Sciences, 284, 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, 704-709, 20030401
- High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, J Neurol Sci, 246, 79-83, 20060701
- 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
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, J Neurol Sci., 15(284), 69-71, 20090501
- LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease., Mov Disord., 24(7), 1034-41, 20090501
- A new causative gene: optineurin for familial ALS, Journal of Clinical and Experimental Medicine, 235(3), 227-230, 20101001
- 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
- The UCHL1 polymorphism and parkinson's disease in a Japanese population, Parkinsonism and Related Disorders, 17, 473-475, 20110701
- Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 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(12), 573, 20111201
- Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
- Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
- Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
- Investigation on circular asymmetry of geographical distribution of mortality risk in Hiroshima atomic bomb survivors, IPSHU English Research Report Series, 28, 57-65, 20120401
- Pathomechanisms of ALS based on optineurin dysfuncton, Journal of Clinical and Experimental Medicine, 247(12,13), 1248, 20131201
- Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
- Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
- DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
- ALS12 (optineurin), 27, 496-499, 20140301
- Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease, ARCHIVES OF NEUROLOGY, 57(2), 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(12), 1262-1269, 200012
- A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease, ANNALS OF NEUROLOGY, 47(4), 528-531, 200004
- Electrophysiological studies in spinocerebellar ataxia type 6: a statistical approach, NEUROREPORT, 11(5), 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(5), 653-656, 200005
- Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan, NEUROSCIENCE LETTERS, 300(2), 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(2), 128-130, 20010713
- Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57(2), 337-339, 20010724
- Nicotinic acetylcholine receptors and neurodegenerative disease, ALCOHOL, 24(2), 79-81, 200106
- Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 320(1-2), 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(5), 578-583, 20020708
- Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17(4), 808-811, 200207
- Association between interleukin-6 gene polymorphism and human T-cell leukemia virus type I associated myelopathy, HUMAN IMMUNOLOGY, 63(8), 696-700, 200208
- Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment, NEUROLOGY, 59(6), 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(3), 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(4), 453-457, 200304
- Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease, MOVEMENT DISORDERS, 18(8), 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(2), 209-212, 200402
- Activation of human SII cortex during exploratory finger movement and hand clenching tasks, NEUROREPORT, 16(2), 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(1), 48-49, 20040101
- A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358(2), 107-110, 20040325
- Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61(6), 933-937, 200406
- Disinhibition of the somatosensory cortex in cervical dystonia - decreased amplitudes of high-frequency oscillations, CLINICAL NEUROPHYSIOLOGY, 115(7), 1624-1630, 200407
- 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
- Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy, NEUROSCIENCE LETTERS, 374(3), 218-221, 20050221
- Glutathione-S-transferase-1 and interleukin-1 beta gene polymorphisms in Japanese patients with Parkinson's disease, MOVEMENT DISORDERS, 20(7), 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(8), 1031-1033, 200508
- High frequency of open-angle glaucoma in Japanese patients with Alzheimer's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 246(1-2), 79-83, 20060715
- Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease, JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 296(6), 661-670, 20060809
- Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67(4), 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(9), 1355-1360, 200609
- Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats, NEUROLOGY, 67(8), 1479-1481, 20061024
- 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
- 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
- A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414(1), 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(9), 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(7), 841-847, 200807
- Aortic Pulse Wave Velocity Predicts Cardiovascular Mortality in Middle-Aged and Elderly Japanese Men, CIRCULATION JOURNAL, 73(3), 549-553, 200903
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
- Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-U109, 20100513
- Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement, JOURNAL OF CHILD NEUROLOGY, 25(11), 1429-1434, 201011
- A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data, BMC BIOINFORMATICS, 11, 20101015
- The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 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(9), 20110920
- An autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation, AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 15(3-4), 305-308, 201406
- Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 201407
- Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?, MOVEMENT DISORDERS, 29(7), 921-927, 201406
- Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells, CELL REPORTS, 10(4), 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(5), 504-509, 201410
- Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 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, 20151229
- Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, Neuroscience Letters, 505(3), 279-281, 2011
- Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis, NATURE COMMUNICATIONS, 7, 201608
- Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs, CELL REPORTS, 17(6), 1482-1490, 20161101
- Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis., Neurology, 84(11), 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(12), 2747-2753, 201512
- Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women, HYPERTENSION RESEARCH, 40(2), 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(5), 20170519
- PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation, HUMAN MOLECULAR GENETICS, 26(22), 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(1), 201801
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