Hirofumi Maruyama

Last Updated :2025/03/04

Affiliations, Positions
Graduate School of Biomedical and Health Sciences(Medicine), Professor
E-mail
hmaruhiroshima-u.ac.jp
Other Contact Details
1-2-3, Kasumi, Minami-ku, Hiroshima, Japan
TEL : (+81)82-257-5201 FAX : (+81)82-505-0490
Self-introduction
I study neurodegenerative disease.

Basic Information

Major Professional Backgrounds

  • 2007/04/01, 2013/03/31, Hiroshima University, Research Institute for Radiation Biology and Medicine, Associate Professor
  • 2013/04/01, 2017/01/31, Hiroshima University, Institute of Biomedical & Health Sciences, Associate Professor
  • 2017/02/01, 2019/03/31, Hiroshima University, Clinical Neuroscience and Therapeutics, Professor
  • 2019/04/01, Hiroshima University, Graduate School of Biomedical & Health Sciences, Professor

Educational Backgrounds

  • Hiroshima University, Graduate School, Division of Medical Sciences, Japan, 1992/04, 1996/03
  • Hiroshima University, Faculty of Medicine, Japan, 1984/04, 1990/03

Academic Degrees

  • M.D., Ph.D., Hiroshima University

Educational Activity

  • [Bachelor Degree Program] School of Medicine : Program of Medicine : Medicine
  • [Master's Program] Graduate School of Biomedical and Health Sciences : Division of Integrated Health Sciences
  • [Doctoral Program] Graduate School of Biomedical and Health Sciences : Division of Biomedical Sciences : Program of Medicine

Research Fields

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

Research Keywords

  • neurodegeneration
  • Dementia, Alzheimer's disease
  • amyotrophic lateral sclerosis
  • Spinocerebellar ataxia
  • gene, risk factor
  • genetic counseling

Affiliated Academic Societies

  • Japanese Society of Internal Medicine, 1990
  • Japanese Society of Neurology, 1992
  • Japan Geriatrics Society, 1992
  • Japan Society of Human Genetics, 2001
  • The Japan Stroke Society, 2002
  • American Society of Human Genetics, 2010
  • Japan Society for Dementia Research, 2012
  • World Stroke Organization, 2014
  • World Federation of Neurology, 2011

Educational Activity

Course in Charge

  1. 2024, Undergraduate Education, First Semester, Human genetics
  2. 2024, Undergraduate Education, Intensive, Medical Neuroscience II
  3. 2024, Undergraduate Education, Year, Medical Neuroscience III
  4. 2024, Undergraduate Education, Intensive, Practice for medical research
  5. 2024, Undergraduate Education, Intensive, Practice of Medicine I
  6. 2024, Undergraduate Education, Intensive, Practice of Medicine II
  7. 2024, Graduate Education (Master's Program) , Second Semester, General Clinical Medicine and Dentistry
  8. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  9. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  10. 2024, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  11. 2024, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  12. 2024, Graduate Education (Master's Program) , First Semester, Basic Human Genetics Practice

Research Activities

Academic Papers

  1. Irregular Tremulous Movements and Infrequent Seizures: A Clinical-Electrophysiological Diagnosis of Benign Adult Familial Myoclonus Epilepsy, CUREUS JOURNAL OF MEDICAL SCIENCE, 16(3), e56303, 20240317
    Link to Paper Search Results by DOI
  2. Chronic Visual Abnormality in an Elderly Patient With Temporal Lobe Epilepsy, CUREUS JOURNAL OF MEDICAL SCIENCE, 16(3), e56696, 20240322
    Link to Paper Search Results by DOI
  3. Association between motor symptoms of Parkinson's disease and swallowing disorders, NEUROLOGICAL SCIENCES, 45(5), 2021-2026, 202405
    Link to Paper Search Results by DOI
  4. An Early Neurological Indicator of Immune Effector Cell-Associated Neurotoxicity Syndrome, CUREUS JOURNAL OF MEDICAL SCIENCE, 16(3), e57298, 20240330
    Link to Paper Search Results by DOI
  5. Diffusion-Weighted Imaging Hyperintensities in Acute and Subacute-Phase Intracerebral Hemorrhage, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 31(8), 106549, 202208
    Link to Paper Search Results by DOI
  6. Short-term or long-term outcomes for stroke patients with cancer according to biological markers, JOURNAL OF THE NEUROLOGICAL SCIENCES, 436, 120246, 20220515
    Link to Paper Search Results by DOI
  7. Impact of the RNF213 p.R4810K Variant on Endovascular Therapy for Large-Vessel Occlusion Stroke, STROKE-VASCULAR AND INTERVENTIONAL NEUROLOGY, 2(6), e000396, 202211
    Link to Paper Search Results by DOI
  8. Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy, JOURNAL OF THE NEUROLOGICAL SCIENCES, 460, 122995, 20240515
    Link to Paper Search Results by DOI
  9. Prospective Observational Study for the Comparison of Screening Methods Including Tongue Pressure and Repetitive Saliva Swallowing With Detailed Videofluoroscopic Swallowing Study Findings in Patients With Acute Stroke, JOURNAL OF THE AMERICAN HEART ASSOCIATION, 13(3), e032852, 20240206
    Link to Paper Search Results by DOI
  10. Therapeutic Time Window With DWI-ADC (Diffusion-Weighted Imaging-Apparent Diffusion Coefficient) Match and Periodic Discharges for Status Epilepticus, CUREUS JOURNAL OF MEDICAL SCIENCE, 16(2), e53811, 20240207
    Link to Paper Search Results by DOI
  11. Density spectrum array and difficult to diagnose seizure activity, QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 116(11), 947-948, 202311
    Link to Paper Search Results by DOI
  12. On-scene time delays for epileptic seizures in developed community-based integrated care system regions, EPILEPSY & BEHAVIOR, 151, 109612, 202402
    Link to Paper Search Results by DOI
  13. Liver fibrosis index is associated with functional outcome among acute ischemic stroke patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 33(2), 107537, 202402
    Link to Paper Search Results by DOI
  14. The long-term effects of heated tobacco product exposure on the central nervous system in a mouse model of prodromal Alzheimer's disease, SCIENTIFIC REPORTS, 14(1), 227, 20240102
    Link to Paper Search Results by DOI
  15. Apolipoprotein E genotype-dependent accumulation of amyloid beta in APP-knock-in mouse model of Alzheimer's disease, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 683, 149106, 20231126
    Link to Paper Search Results by DOI
  16. Peak expiratory flow, but not tongue pressure, can predict pneumonia development in older adults, EUROPEAN GERIATRIC MEDICINE, 14(1), 211-217, 202302
    Link to Paper Search Results by DOI
  17. Attacks With Urinary Incontinence Without Convulsions: Complete Atrioventricular Block Mimicking an Epileptic Seizure, CUREUS JOURNAL OF MEDICAL SCIENCE, 15(11), e49552, 20231128
    Link to Paper Search Results by DOI
  18. Detailed findings of videofluoroscopic examination among patients with Parkinson's disease on the effect of cervical percutaneous interferential current stimulation, FRONTIERS IN NEUROLOGY, 14, 1212024, 20231107
    Link to Paper Search Results by DOI
  19. Swallowing sound index analysis using electronic stethoscope and artificial intelligence for patients with Parkinson's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 454, 120831, 20231115
    Link to Paper Search Results by DOI
  20. 'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy, BRAIN COMMUNICATIONS, 5(6), fcad281, 20231101
    Link to Paper Search Results by DOI
  21. Antibody-recognizing residues 188-211 of TMEM106B exhibit immunohistochemical reactivity with the TMEM106B C-terminal fragment, FRONTIERS IN NEUROSCIENCE, 17, 1250547, 20231023
    Link to Paper Search Results by DOI
  22. Swallowing sound evaluation using an electronic stethoscope and artificial intelligence analysis for patients with amyotrophic lateral sclerosis, FRONTIERS IN NEUROLOGY, 14, 1212024, 20230803
    Link to Paper Search Results by DOI
  23. Association between Carotid Wall Shear Stress-Based Vascular Vector Flow Mapping and Cerebral Small Vessel Disease, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 30(9), 1165-1175, 2023
    Link to Paper Search Results by DOI
  24. Exacerbation of Repetitive Falls Due to Atonic Seizures Following Perampanel Administration, CUREUS JOURNAL OF MEDICAL SCIENCE, 15(6), e40818, 20230622
    Link to Paper Search Results by DOI
  25. 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
  26. Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection, PLOS ONE, 18(6), e0287545, 20230623
    Link to Paper Search Results by DOI
  27. Impact of neck percutaneous interferential current sensory stimulation on swallowing function in patients with Parkinson's disease: A single-arm, open-label study protocol, CONTEMPORARY CLINICAL TRIALS COMMUNICATIONS, 33, 101158, 202306
    Link to Paper Search Results by DOI
  28. Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient, FRONTIERS IN NEUROLOGY, 14, 1187822, 20230613
    Link to Paper Search Results by DOI
  29. Reversible Brain Atrophy in Cryptogenic New-onset Refractory Status Epilepticus, INTERNAL MEDICINE, 62(12), 1835-1842, 2023
    Link to Paper Search Results by DOI
  30. Nerve Ultrasonography for the Diagnosis and Evaluation of Neuralgic Amyotrophy, INTERNAL MEDICINE, 62(12), 1843-1847, 2023
    Link to Paper Search Results by DOI
  31. On-scene time delays for epileptic seizures in emergencies during a social pandemic: A population-based study, EPILEPSY & BEHAVIOR, 142, 109211, 202305
    Link to Paper Search Results by DOI
  32. A case of ischemic stroke associated with protein-losing gastroenteropathy and protein S deficiency, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 32(7), 107151, 202307
    Link to Paper Search Results by DOI
  33. Paradoxical effects of levetiracetam in people with epilepsy with rhythmic epileptiform discharges, EPILEPSY & BEHAVIOR, 143, 109225, 202306
    Link to Paper Search Results by DOI
  34. Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing, NEUROLOGY AND CLINICAL NEUROSCIENCE, 11(3), 140-145, 202305
    Link to Paper Search Results by DOI
  35. Features of repetitive nerve stimulation and nerve conduction studies in patients with amyotrophic lateral sclerosis, NEUROLOGY AND CLINICAL NEUROSCIENCE, 11(3), 134-139, 202305
    Link to Paper Search Results by DOI
  36. Encephalopathy after COVID-19 vaccination during treatment with nivolumab: A case report, CLINICAL NEUROLOGY AND NEUROSURGERY, 226, 107632, 202303
    Link to Paper Search Results by DOI
  37. Morphological study of the phrenic nerve to determine a reference value for the myelinated fiber density in elderly individuals, NEUROPATHOLOGY, 43(2), 129-134, 202304
    Link to Paper Search Results by DOI
  38. Immediate and 6-month seizure outcomes following first and second SARS-CoV2 mRNA vaccinations: A multicenter study with a nationwide survey, EPILEPSY & BEHAVIOR, 139, 109070, 202302
    Link to Paper Search Results by DOI
  39. Periapical lesion following Cnm-positive Streptococcus mutans pulp infection worsens cerebral hemorrhage onset in an SHRSP rat model, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 210(3), 321-330, 20221231
    Link to Paper Search Results by DOI
  40. The association between nutritional intake one week after admission and outcome in acute ischemic stroke patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 31(11), 106812, 202211
    Link to Paper Search Results by DOI
  41. A case of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: Long-term treatment with repeated courses of immunotherapy, NEUROLOGY AND CLINICAL NEUROSCIENCE, 10(6), 321-324, 202211
    Link to Paper Search Results by DOI
  42. Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients, JOURNAL OF HUMAN GENETICS, 68(2), 91-95, 202302
    Link to Paper Search Results by DOI
  43. Are patients with Parkinson's disease at a lower risk of catching the common cold? Propensity score matching, PARKINSONISM & RELATED DISORDERS, 106, 105227, 202301
    Link to Paper Search Results by DOI
  44. Detecting motor unit abnormalities in amyotrophic lateral sclerosis using high-density surface EMG, CLINICAL NEUROPHYSIOLOGY, 142, 262-272, 202210
    Link to Paper Search Results by DOI
  45. 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
  46. Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis A Randomized Clinical Trial, JAMA NEUROLOGY, 79(6), 575-583, 202206
    Link to Paper Search Results by DOI
  47. Compassionate open-label use of rituximab following a randomised clinical trial against neuromyelitis optica (RIN-2 study): B cell monitoring-based administration, MULTIPLE SCLEROSIS AND RELATED DISORDERS, 60, 103730, 202204
    Link to Paper Search Results by DOI
  48. Various effects of nutritional status on clinical outcomes after intracerebral hemorrhage, INTERNAL AND EMERGENCY MEDICINE, 17(4), 1043-1052, 202206
    Link to Paper Search Results by DOI
  49. Assessment of Serum IgG Titers to Various Periodontal Pathogens Associated with Atrial Fibrillation in Acute Stroke Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 31(3), 106301, 202203
    Link to Paper Search Results by DOI
  50. Clinical characteristics and tumor markers in ischemic stroke patients with active cancer, INTERNAL AND EMERGENCY MEDICINE, 17(3), 735-741, 202204
    Link to Paper Search Results by DOI
  51. Autopsy Validation of the Diagnostic Accuracy of I-123-Metaiodobenzylguanidine Myocardial Scintigraphy for Lewy Body Disease, NEUROLOGY, 98(16), E1648-E1659, 20220419
    Link to Paper Search Results by DOI
  52. Clinical Factors Predicting Voluntary Driving Cessation among Patients with Parkinson's Disease, BEHAVIOURAL NEUROLOGY, 2022, 804702, 20220320
    Link to Paper Search Results by DOI
  53. Characteristics of cause of death and triggers for crisis in patients with myasthenia gravis, NEUROLOGY AND CLINICAL NEUROSCIENCE, 10(3), 147-154, 202205
    Link to Paper Search Results by DOI
  54. Seizure Deterioration with Increased Levetiracetam Blood Concentration during the Postpartum Period in Refractory Temporal Lobe Epilepsy, INTERNAL MEDICINE, 61(8), 1237-1240, 2022
    Link to Paper Search Results by DOI
  55. A longitudinal seizure outcome following the COVID-19 pandemic in 2020 and 2021: Transient exacerbation or sustainable mitigation, JOURNAL OF THE NEUROLOGICAL SCIENCES, 434, 120100, 20220315
    Link to Paper Search Results by DOI
  56. Increased Serum Alkaline Phosphatase and Functional Outcome in Patients with Acute Ischemic Stroke Presenting a Low Ankle- Brachial Index, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 29(5), 719-730, 2022
    Link to Paper Search Results by DOI
  57. Amyloid Beta Is Internalized via Macropinocytosis, an HSPG- and Lipid Raft-Dependent and Rac1-Mediated Process, FRONTIERS IN MOLECULAR NEUROSCIENCE, 15, 804702, 20220211
    Link to Paper Search Results by DOI
  58. Laterality of the activation of the vastus lateralis muscle in females with Parkinson's disease during the medication state compared with healthy controls, JOURNAL OF INTEGRATIVE NEUROSCIENCE, 21(1), 1-8, 20220128
    Link to Paper Search Results by DOI
  59. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions, DIFFERENTIATION, 123, 1-8, 202201
    Link to Paper Search Results by DOI
  60. Screening for non-convulsive status epileptics with density spectrum array in critical care EEG., QJM, 114(12), 893-894, 2021
  61. A case of repetitive seizures following immune checkpoint inhibitor therapy as a feature of autoimmune encephalitis., Epileptic Disorders, 23(5), 733-738, 202110
  62. A role of aging in the progression of cortical excitability in Benign Adult Familial Myoclonus Epilepsy type 1 patients., Movement Disorders, 36(10), 2446-2448, 202110
  63. Nationwide online EEG education during coronavirus disease 2019 pandemic., Clinical Neurophysiology, 132, 2763-2765, 2021
  64. Extreme delta brush in anti-NMDAR encephalitis: mimics and chameleons., Epilepsia Open, 6, 443-446, 2021
  65. Emotional facial paresis in temporal lobe epilepsy., Internal Medicien, 60, 2705-2706, 2021
  66. Detailed neuronal distribution of GPR3 and its co-expression with EF-hand calcium-binding proteins in the mouse central nervous system, BRAIN RESEARCH, 1750, 147166, 20210101
    Link to Paper Search Results by DOI
  67. Prospective Memory Deficits in Multiple Sclerosis: Voxel-based Morphometry and Double Inversion Recovery Analysis, INTERNAL MEDICINE, 60(1), 39-46, 2021
    Link to Paper Search Results by DOI
  68. Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients, NEUROPATHOLOGY, 41(1), 29-36, 202102
    Link to Paper Search Results by DOI
  69. Association between stroke lesions and videofluoroscopic findings in acute stroke patients, JOURNAL OF NEUROLOGY, 268(3), 1025-1035, 202103
    Link to Paper Search Results by DOI
  70. Low-dose Contrast-induced Encephalopathy During Diagnostic Cerebral Angiography, INTERNAL MEDICINE, 60(4), 629-633, 2021
    Link to Paper Search Results by DOI
  71. Identification of the laterality of motor unit behavior in female patients with parkinson's disease using high-density surface electromyography, EUROPEAN JOURNAL OF NEUROSCIENCE, 53(6), 1938-1949, 202103
    Link to Paper Search Results by DOI
  72. The Effect of Electrical Muscle Stimulation on Muscle Mass and Balance in Older Adults with Dementia, BRAIN SCIENCES, 11(3), 202103
    Link to Paper Search Results by DOI
  73. cnm-Positive Streptococcus mutans and diffusion-weighted imaging hyperintensities in acute intracerebral hemorrhage, EUROPEAN JOURNAL OF NEUROLOGY, 28(5), 1581-1589, 202105
    Link to Paper Search Results by DOI
  74. 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
    Link to Paper Search Results by DOI
  75. Socio-economic impact on epilepsy outside of the nation-wide COVID-19 pandemic area, EPILEPSY & BEHAVIOR, 117, 202104
    Link to Paper Search Results by DOI
  76. Impact of anatomical variations on ultrasonographic reference values of lower extremity peripheral nerves, MUSCLE & NERVE, 63(6), 890-896, 202106
    Link to Paper Search Results by DOI
  77. Giant Cell Arteritis with Internal Carotid Artery Occlusion in the Absence of Typical Clinical Features, INTERNAL MEDICINE, 60(8), 1293-1297, 202104
    Link to Paper Search Results by DOI
  78. Optineurin defects cause TDP43-pathology with autophagic vacuolar formation, NEUROBIOLOGY OF DISEASE, 148, 202101
    Link to Paper Search Results by DOI
  79. Rapid ping-pong eye deviation following a recovery from carbon dioxide narcosis, BMJ CASE REPORTS, 14(3), 202103
    Link to Paper Search Results by DOI
  80. External cervical resorption detected via cone-beam computed tomography in a patient with myelin oligodendrocyte glycoprotein antibody-associated disease: A case report, CLINICAL CASE REPORTS, 9(7), 202107
    Link to Paper Search Results by DOI
  81. RNF213 p.R4810K (c.14429G > A) Variant Determines Anatomical Variations of the Circle of Willis in Cerebrovascular Disease, FRONTIERS IN AGING NEUROSCIENCE, 13, 20210715
    Link to Paper Search Results by DOI
  82. Influence of current and previous smoking on current phenotype in Parkinson's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 427, 20210815
    Link to Paper Search Results by DOI
  83. Analysis of genetic risk factors in Japanese patients with Parkinson's disease, JOURNAL OF HUMAN GENETICS, 66(10), 957-964, 202110
    Link to Paper Search Results by DOI
  84. The effect of electrical muscle stimulation on quadriceps muscle strength and activation patterns in healthy young adults, EUROPEAN JOURNAL OF SPORT SCIENCE, 21(10), 1414-1422, 20211003
    Link to Paper Search Results by DOI
  85. Association between the Degree of Pre-Synaptic Dopaminergic Pathway Degeneration and Motor Unit Firing Behavior in Parkinson's Disease Patients, SENSORS, 21(19), 202110
    Link to Paper Search Results by DOI
  86. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report, BMC NEUROLOGY, 21(1), 20211012
    Link to Paper Search Results by DOI
  87. The Effect of a Portable Electrical Muscle Stimulation on Brain-Derived Neurotrophic Factor in Elderly People: Three Case Studies, GERONTOLOGY AND GERIATRIC MEDICINE, 7, 20210819
    Link to Paper Search Results by DOI
  88. Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging, NEUROLOGY-GENETICS, 7(4), 202108
    Link to Paper Search Results by DOI
  89. Utility of Magnetic Resonance Spectroscopy for the Progression of Neurological Symptoms in Lenticulostriate Artery Territory Infarction, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 30(6), 105747, 202106
    Link to Paper Search Results by DOI
  90. Study Protocol for a Randomized, Double-Blind, Placebo-Controlled, Phase-II Trial: AdrenoMedullin for Ischemic Stroke Study, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 30(6), 105761, 202106
    Link to Paper Search Results by DOI
  91. Efficacy of Lacosamide in a Patient with Refractory Generalized Epilepsy Based on Video Electroencephalography, INTERNAL MEDICINE, 60(22), 3621-3624, 2021
    Link to Paper Search Results by DOI
  92. Focal hyperperfusion and elevated lactate in the cerebral lesions with anti-GABAaR encephalitis: a serial MRI study., Journal of Neuroradiology, 47(3), 243-246, 2020
  93. Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-assosicated protein 410 mutation, Journal of Neurology, Neurosurgery, and Psychiatry, 91(2), 220-222, 2020
  94. Increased blood pressure variability during the subacute phase of ischemic stroke is associated with poor functional outcomes at 3 months, SCIENTIFIC REPORTS, 10(1), 811, 20200121
    Link to Paper Search Results by DOI
  95. Effect of tooth loss and nutritional status on outcomes after ischemic stroke, NUTRITION, 71, 110606, 202003
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  96. Nicotine-induced upregulation of miR-132-5p enhances cell survival in PC12 cells by targeting the anti-apoptotic protein Bcl-2, NEUROLOGICAL RESEARCH, 42(5), 405-414, 20200503
    Link to Paper Search Results by DOI
  97. Safety and efficacy of rituximab in neuromyelitis optica spectrum disorders (RIN-1 study): a multicentre, randomised, double-blind, placebo-controlled trial, LANCET NEUROLOGY, 19(4), 298-306, 202004
  98. Histone deacetylase 10 knockout activates chaperone-mediated autophagy and accelerates the decomposition of its substrate, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 523(1), 246-252, 20200226
    Link to Paper Search Results by DOI
  99. Increased blood pressure variability during the subacute phase in patients with ischemic stroke presenting with a low ankle-brachial index, GERIATRICS & GERONTOLOGY INTERNATIONAL, 20(5), 448-454, 202005
    Link to Paper Search Results by DOI
  100. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6(1), e396, 202002
    Link to Paper Search Results by DOI
  101. Different Influences of Statin Treat en in Preventing At-Risk Stroke Subtypes A Post Hoc Analysis of J-STARS, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 27(5), 449-460, 2020
    Link to Paper Search Results by DOI
  102. Serum immunoglobulin G antibody titer to Fusobacterium nucleatum is associated with unfavorable outcome after stroke, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 200(3), 302-309, 202006
    Link to Paper Search Results by DOI
  103. Anti-HMGCR Antibody-Positive Myopathy Shows Bcl-2-Positive Inflammation and Lymphocytic Accumulations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 79(4), 448-457, 202004
    Link to Paper Search Results by DOI
  104. Effect of Statin on Stroke Recurrence Prevention at Different Infarction Locations: A Post Hoc Analysis of The J-STARS Study, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 27(6), 524-533, 2020
    Link to Paper Search Results by DOI
  105. Measurement of the length of vertebrobasilar arteries: A three-dimensional approach, JOURNAL OF THE NEUROLOGICAL SCIENCES, 414(116818), 20200715
    Link to Paper Search Results by DOI
  106. Pomalidomide-associated progressive multifocal leukoencephalopathy in multiple myeloma: cortical susceptibility-weighted imaging hypointense findings prior to clinical deterioration, JOURNAL OF NEUROVIROLOGY, 26(3), 452-455, 202006
    Link to Paper Search Results by DOI
  107. Conus Medullaris Infarction Involving the Paraspinal Muscles and Nerve Roots, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 29(8), 104983, 202008
    Link to Paper Search Results by DOI
  108. Serum IgG titers to periodontal pathogens predict 3-month outcome in ischemic stroke patients, PLOS ONE, 15(8), e0237185, 20200806
    Link to Paper Search Results by DOI
  109. Association between periodontal disease due to Campylobacter rectus and cerebral microbleeds in acute stroke patients, PLOS ONE, 15(10), e0239773, 20201008
    Link to Paper Search Results by DOI
  110. Serum IgG titers against periodontal pathogens are associated with cerebral hemorrhage growth and 3-month outcome, PLOS ONE, 15(10), e0237185, 20201028
    Link to Paper Search Results by DOI
  111. 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, 163, 20201226
    Link to Paper Search Results by DOI
  112. Delayed Swallowing Reflex is Overlooked in Swallowing Screening Among Acute Stroke Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 29(12), 105303, 202012
    Link to Paper Search Results by DOI
  113. Effects of vascular compression on the rostral ventrolateral medulla for blood pressure variability in stroke patients, JOURNAL OF HYPERTENSION, 38(12), 2443-2450, 202012
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  114. Prognostic role of the controlling nutritional status score in acute ischemic stroke among stroke subtypes, JOURNAL OF THE NEUROLOGICAL SCIENCES, 416, 116984, 20200915
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  115. Lobar microbleeds are associated with cognitive impairment in patients with lacunar infarction, SCIENTIFIC REPORTS, 10(1), 20201002
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  116. Synphilin-1 has neuroprotective effects on MPP+-induced Parkinson's disease model cells by inhibiting ROS production and apoptosis, NEUROSCIENCE LETTERS, 690, 145-150, 20190118
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  117. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39(1), 47-53, 201902
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  118. A rational, multispectral mapping algorithm for primary motor cortex: A primary step before cortical stimulation, EPILEPSIA, 60(3), 547-559, 201903
    Link to Paper Search Results by DOI
  119. The effect of a portable electrical muscle stimulation device at home on muscle strength and activation patterns in locomotive syndrome patients: A randomized control trial, JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY, 45, 46-52, 201904
    Link to Paper Search Results by DOI
  120. Utility of Minimum Apparent Diffusion Coefficient Ratios in Alberta Stroke Program Early CT Score Regions for Deciding on Stroke Therapy, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 28(5), 1371-1380, 201905
    Link to Paper Search Results by DOI
  121. Absence of an Autonomic Sign Assists in the Diagnosis of Extratemporal Lobe Epilepsy Manifesting Generalized Convulsion with Retained Awareness, INTERNAL MEDICINE, 58(8), 1151-1155, 2019
    Link to Paper Search Results by DOI
  122. Metastatic Malignant Lymphoma Mimicking Cerebral Toxoplasmosis with the "Target Sign", INTERNAL MEDICINE, 58(8), 1157-1162, 2019
    Link to Paper Search Results by DOI
  123. Cumulative Effects of LDL Cholesterol and CRP Levels on Recurrent Stroke and TIA, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 26(5), 432-441, 2019
    Link to Paper Search Results by DOI
  124. Warm Front Passage on the Previous Day Increased Ischemic Stroke Events, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 28(7), 1873-1878, 201907
    Link to Paper Search Results by DOI
  125. Low-dose perampanel improves refractory cortical myoclonus by the dispersed and suppressed paroxysmal depolarization shifts in the sensorimotor cortex, CLINICAL NEUROPHYSIOLOGY, 130(10), 1804-1812, 201910
    Link to Paper Search Results by DOI
  126. A mutant MATR3 mouse model to explain multisystem proteinopathy, JOURNAL OF PATHOLOGY, 249(2), 182-192, 201910
    Link to Paper Search Results by DOI
  127. Usefulness of Histogram-Profile Analysis in Ring-Enhancing Intracranial Lesions, WORLD NEUROSURGERY, 131, E226-E236, 201911
    Link to Paper Search Results by DOI
  128. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy, LABORATORY INVESTIGATION, 99(11), 1728-1740, 201911
    Link to Paper Search Results by DOI
  129. A score to map the lateral nonprimary motor area: Multispectrum intrinsic brain activity versus cortical stimulation, EPILEPSIA, 60(11), 2294-2305, 201911
    Link to Paper Search Results by DOI
  130. Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis, STROKE, 50(6), 1561-1563, 201906
    Link to Paper Search Results by DOI
  131. Baseline Carotid Intima-Media Thickness and Stroke Recurrence During Secondary Prevention With Pravastatin, STROKE, 50(6), 1586-1589, 201906
    Link to Paper Search Results by DOI
  132. Steroid-responsive Nivolumab-induced Involuntary Movement with Anti-thyroid Antibodies, INTERNAL MEDICINE, 58(24), 3577-3581, 2019
    Link to Paper Search Results by DOI
  133. Abscess formation in metastatic brain tumor with history of immune checkpoint inhibitor: A case report., NMC Case Report Journal, 6(1), 11-15, 201901
  134. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of the Neurological Sciences, 396, 119-120, 2019
  135. Long-Term Effect of Pravastatin on Carotid Intima-Media Complex Thickness The J-STARS Echo Study (Japan Statin Treatment Against Recurrent Stroke), STROKE, 49(1), 107-113, 201801
    Link to Paper Search Results by DOI
  136. Pravastatin Reduces the Risk of Atherothrombotic Stroke when Administered within Six Months of an Initial Stroke Event, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 25(3), 262-268, 201803
    Link to Paper Search Results by DOI
  137. Impact of D-dimer levels for short-term or long-term outcomes in cryptogenic stroke patients, JOURNAL OF NEUROLOGY, 265(3), 628-636, 201803
    Link to Paper Search Results by DOI
  138. Blood Pressure Variability in Acute Ischemic Stroke: Influence of Infarct Location in the Insular Cortex, EUROPEAN NEUROLOGY, 79(1-2), 90-99, 201801
    Link to Paper Search Results by DOI
  139. Alpha-2-macroglobulin as a Promising Biological Marker of Endothelial Function, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 25(4), 350-358, 2018
    Link to Paper Search Results by DOI
  140. Factors Associated with Intima-Media Complex Thickness of the Common Carotid Artery in Japanese Noncardioembolic Stroke Patients with Hyperlipidemia: The J-STARS Echo Study, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 25(4), 359-373, 2018
    Link to Paper Search Results by DOI
  141. Desirable Low-Density Lipoprotein Cholesterol Levels for Preventing Stroke Recurrence A Post Hoc Analysis of the J-STARS Study (Japan Statin Treatment Against Recurrent Stroke), STROKE, 49(4), 865-871, 201804
    Link to Paper Search Results by DOI
  142. Effects of controlled abnormal joint movement on the molecular biological response in intra-articular tissues during the acute phase of anterior cruciate ligament injury in a rat model, BMC MUSCULOSKELETAL DISORDERS, 19, 175, 20180529
    Link to Paper Search Results by DOI
  143. Effects of Cilnidipine, an L/N-Type Calcium Channel Blocker, on Carotid Atherosclerosis in Japanese Post-Stroke Hypertensive Patients: Results from the CA-ATTEND Study, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 25(6), 490-504, 201806
    Link to Paper Search Results by DOI
  144. Multi-component intrinsic brain activities as a safe alternative to cortical stimulation for sensori-motor mapping in neurosurgery, CLINICAL NEUROPHYSIOLOGY, 129(9), 2038-2048, 201809
    Link to Paper Search Results by DOI
  145. Flip-Flop Phenomenon: Swallowing-Induced Arterial Displacement as an Indicator of Carotid Artery Disease, CEREBROVASCULAR DISEASES, 45(5-6), 258-262, 2018
    Link to Paper Search Results by DOI
  146. Antithrombotic Therapy Strategy for Cancer-Associated Ischemic Stroke: A Case Series of 26 Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 27(9), E206-E211, 201809
    Link to Paper Search Results by DOI
  147. The effect of medication on vastus lateralis muscle activation patterns in Parkinson's disease patients, JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY, 42, 66-73, 201810
    Link to Paper Search Results by DOI
  148. Muscle-dominant wild-type TDP-43 expression induces myopathological changes featuring tubular aggregates and TDP-43-positive inclusions, EXPERIMENTAL NEUROLOGY, 309, 169-180, 201811
    Link to Paper Search Results by DOI
  149. 4 ',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits, JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 66(10), 737-751, 201810
    Link to Paper Search Results by DOI
  150. Controlling nutritional status score for predicting 3-mo functional outcome in acute ischemic stroke, NUTRITION, 55-56, 1-6, 2018
    Link to Paper Search Results by DOI
  151. Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring alpha-Galactosidase A and Globotriaosylsphingosine, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 27(12), 3563-3569, 201812
    Link to Paper Search Results by DOI
  152. The origins of rimmed vacuoles and granulovascuolar degeneration bodies are similar and are associated with the Wnt signaling pathway., Neuroscience Letters, 638(1), 55-59, 201701
  153. Sex differences in variances of multi-channel surface electromyography distribution of the vastus lateralis muscle during isometric knee extension in young adults., European Journal of Applied Physiology, 117, 583-589, 201703
  154. Pyrimethamine-indeuced transient leukoencephalopathy: similarity to methotrexate encephalopathy., Neurology and Clinical Neuroscience, 5(1/2), 75-75, 201704
  155. 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), e.0177955, 201705
  156. Ischemic stroke mortality is more strongly associated with anemia on admission than with underweight status, Journal of Stroke and Cerebrovascular Diseases,, 26(6), 1369-1374, 201706
  157. Blood pressure control with cilnidipine treatment in Japanese post-stroke hypertensive patients: The CA-ATTEND study, CLINICAL AND EXPERIMENTAL HYPERTENSION, 39(3), 225-234, 2017
    Link to Paper Search Results by DOI
  158. Modifications of tau protein after cerebral ischemia and reperfusion in rats are similar to those occurring in Alzheimer's disease- hyperphosphorylation and cleavage of 4- and 3-repeat tau, Journal of Cerebral Blood Flow & Metabolism, 37(7), 2441-2457, 201707
  159. Various meteorological conditions exhibit both immediate and delayed influences on the risk of stroke events: The HEWS-stroke study, PLOS ONE, 12(5), 20170602
    Link to Paper Search Results by DOI
  160. Maximum tongue pressure is associated with swallowing dysfunction in ALS patients., Dysphagia, 32(4), 542-547, 201708
  161. Spatial electromyography distribution pattern of the vastus lateralis muscle during ramp up contractions in Parkinson's disease patients, JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY, 37, 125-131, 201712
    Link to Paper Search Results by DOI
  162. Ability of the Ankle Brachial Index and Brachial-Ankle Pulse Wave Velocity to Predict the 3-Month Outcome in Patients with Non-Cardioembolic Stroke, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 24(11), 1167-1173, 201711
    Link to Paper Search Results by DOI
  163. The identification of raft-derived tau-associated vesicules that are incorporated into immature tangles and paired helical filaments, Neuropathology and Applied Neurobiology, 42, 639-653, 201612
  164. Tongue thickness evaluation using ultrasonography can predict swallowing function in amyotrophic lateral sclerosis patients, CLINICAL NEUROPHYSIOLOGY, 127(2), 1669-1674, 201602
    Link to Paper Search Results by DOI
  165. Translocated in liposarcoma regulates the distribution and function of mammalian enabled, a modulator of actin dynamics, FEBS JOURNAL, 283(8), 1475-1487, 201604
    Link to Paper Search Results by DOI
  166. The multidisciplinary swallowing team approach decreases pneumonia onset in acute stroke patients., PLoS One, 11(5), e0154608, 201605
  167. Temporal Trends in Stroke Severity and Prior Antithrombotic Use Among Acute Ischemic Stroke Patients in Japan, CIRCULATION JOURNAL, 80(9), 2033-2036, 201609
    Link to Paper Search Results by DOI
  168. Warfarin-Resistant Deep Vein Thrombosis during the Treatment of Acute Ischemic Stroke in Lung Adenocarcinoma, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 25(9), E141-E145, 201609
    Link to Paper Search Results by DOI
  169. Prediction of Pneumonia in Acute Stroke Patients Using Tongue Pressure Measurements, PLOS ONE, 11(11), e0165837, 20161101
    Link to Paper Search Results by DOI
  170. A multidisciplinary pain, agitation, and delirium management team can promote rehabilitation in the intensive care unit: A case report., Progress in Rehabilitation Medicien, 1, 201612
  171. Endothelial dysfunction is associated with the severity of cerebral small vessel disease, HYPERTENSION RESEARCH, 38(4), 291-297, 201504
    Link to Paper Search Results by DOI
  172. Telomere G-tail length is a promising biomarker related to white matter lesions and endothelial dysfunction in patients with cardiovascular risk: A cross-sectional study., EBioMedicine, 2(8), 960-967, 2015
  173. The Japan Statin Treatment against Recurrent Stroke (J-STARS): a multicenter, randomized, open-label, parallel-group study., EBioMedicine, 2(9), 1071-1078, 2015
  174. A case of recurrent ischemic stroke involving sub-acute progressive intracranial cerebral arterial sclerosis prior to diagnosis with JAK2-mutated polycythemia vera., Journal of Stroke and Cerebrovascular Disease, 24(12), e4-e6, 201512
  175. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia, Molecular Brain, 8, 89, 20151229
  176. Immediate effect of passive and active stretching on hamstrings flexibility: a single-blinded randomized control trial, JOURNAL OF PHYSICAL THERAPY SCIENCE, 27(10), 3167-3170, 201510
  177. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14(1), 5, 20140107
    Link to Paper Search Results by DOI
  178. 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
  179. 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
  180. Fiber Type-Specific Expression of Low-Density Lipoprotein Receptor-Related Protein 6 in Human Skeletal Muscles, PATHOBIOLOGY, 81(2), 94-99, 2014
    Link to Paper Search Results by DOI
  181. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
  182. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
  183. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
  184. Paroxysmal dysarthria and ataxia in chronic lymphocyticinflammation with pontine perivascular enhancementresponsive to steroids, Neurology and Clinical Neuroscience, 2(1), 13-15, 20140201
  185. 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
  186. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 1780.e1-1780.e5, 201407
    Link to Paper Search Results by DOI
  187. 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
    Link to Paper Search Results by DOI
  188. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 2054-2061, 20141125
    Link to Paper Search Results by DOI
  189. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
    Link to Paper Search Results by DOI
  190. 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
  191. Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot-Marie-Tooth disease: distinction from patients with chronic inflammatory demyelinating polyneuropathy, JOURNAL OF NEUROLOGY, 260(10), 2580-2587, 201310
    Link to Paper Search Results by DOI
  192. Molecular Markers for Granulovacuolar Degeneration Are Present in Rimmed Vacuoles, PLOS ONE, 8(11), e80995, 20131128
    Link to Paper Search Results by DOI
  193. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
  194. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
  195. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
  196. 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
  197. 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
  198. 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
  199. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 1923.e9-1923.e10, 201110
    Link to Paper Search Results by DOI
  200. 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
  201. 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
  202. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
  203. 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
  204. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
    Link to Paper Search Results by DOI
  205. ★, Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-226, 20100513
    Link to Paper Search Results by DOI
  206. 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
  207. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
    Link to Paper Search Results by DOI
  208. The CNTN4 c.4256C > T mutation is rare in Japanese with inherited spinocerebellar ataxia, JOURNAL OF THE NEUROLOGICAL SCIENCES, 266(1-2), 180-181, 20080315
    Link to Paper Search Results by DOI
  209. 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
    Link to Paper Search Results by DOI
  210. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414(1), 71-74, 20070227
    Link to Paper Search Results by DOI
  211. 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
  212. 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
    Link to Paper Search Results by DOI
  213. 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
    Link to Paper Search Results by DOI
  214. 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
  215. 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
  216. 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
  217. 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
  218. 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
  219. 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
  220. 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
  221. ★, 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
  222. 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
  223. Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene, Journal of the Neurological Sciences., 193, 63, 20010401
  224. Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels, JOURNAL OF THE NEUROLOGICAL SCIENCES, 182(2), 167-170, 20010101
    Link to Paper Search Results by DOI
  225. Diagnostic significance of tau protein in cerebrospinal fluid from patients with corticobasal degeneration or progressive supranuclear palsy, JOURNAL OF THE NEUROLOGICAL SCIENCES, 183(1), 95-98, 20010115
    Link to Paper Search Results by DOI
  226. 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
  227. 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
  228. 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
  229. ★, 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
  230. 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
  231. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
  232. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
  233. CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152(2), 166-171, 19970201
  234. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6(8), 1283-1287, 19970401
  235. 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
  236. Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221, 199-204, 19960401
  237. 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
  238. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 1154-1156, 19960401
  239. 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
  240. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
  241. ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
  242. Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9(4), 344-345, 19950401
  243. An autopsied case of ADSSL1 myopathy, NEUROMUSCULAR DISORDERS, 31(11), 1220-1225, 202111
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  244. Predictors of Stroke Outcome Extracted from Multivariate Linear Discriminant Analysis or Neural Network Analysis, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 29(1), 99-110, 2022
    Link to Paper Search Results by DOI

Publications such as books

  1. 1996, International Academy for Biological and Drug Research (T Shibuya ed), Glutamate transporter and neurodegenerative diseases, 1996, Scholarly Book, Joint work, Shigenobu Nakamura, Hideshi Kawakami, Kohichi Tanaka, Takayasu Nakayama, Hiroshi Yamashita, Yu-Xiang Zhang, Ken Inoue, Hirofumi Maruyama, Setsuo Takai, Kiyomi Yamada, 32-40
  2. 2001, Neuroscientific Basis of Dementia (Tanaka C, McGeer PL, Ihara Y eds), Risk factors for dementia, 2001, Scholarly Book, Joint work, Nakamura S, Maruyama H, Toji H, Kawakami H, Yamada M, Mimori Y, 279-286

Invited Lecture, Oral Presentation, Poster Presentation

  1. Association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer's disease, Hirofumi Maruyama, 17th ISN/13th ESN Joint Meeting, 1999, Without Invitation, English
  2. Causative gene of amyotrophic lateral sclerosis: optineurin, Hirofumi Maruyama, 60th Annual Meeting of The American Society of Human Genetics, 2010, Without Invitation, English

Awards

  1. 2010/10/29, Encouragement Award of Japan Society of Human Genetics, Japan Society of Human Genetics, Identification of causative gene of amyotrophic lareral sclerosis; optineurin
  2. 2011/05/18, Award of Japanese Society of Neurology, Japanese Society of Neurology, Identification of new causative gene of amyotrophic lateral sclerosis; optineurin
  3. 2011/11/01, Encouragement Award of Japan Medical Association, Japan Medical Association, Construction and Evaluation of ALS model mouse for optineurin

External Funds

Acceptance Results of Competitive Funds

  1. Funding Program for Next Generation World-Leading Researchers, Reseach on mechanisms of optineurin and related subjects in amyotrophic lateral sclerosis, 2011/02/10, 2014/03/31

Social Activities

History as Committee Members

  1. Chief of the Center, 2019/04, 2025/03, Center for Intractable Disease Control (Hiroshima)

History as Peer Reviews of Academic Papers

  1. 2024, Neuroscience, Others, Reviewer, 1
  2. 2024, Nature Communications, Others, Reviewer, 1
  3. 2025, Acta Neurologica Scandinavica, Others, Reviewer, 1
  4. 2024, Journal of the Neurological Sciences, Others, Reviewer, 2
  5. 2024, Neurology and Clinical Neuroscience, Others, Reviewer, 2
  6. 2024, Hiroshima Journal of Medical Sciences, Editor, Associate Editors