Hirofumi Maruyama

Last Updated :2022/06/30

Affiliations, Positions
Graduate School of Biomedical and Health Sciences(Medicine), Professor
Other Contact Details
1-2-3, Kasumi, Minami-ku, Hiroshima, Japan
TEL : (+81)82-257-5201 FAX : (+81)82-505-0490
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. 2022, Undergraduate Education, First Semester, Human genetics
  2. 2022, Undergraduate Education, Intensive, Medical Neuroscience II
  3. 2022, Undergraduate Education, Year, Medical Neuroscience III
  4. 2022, Undergraduate Education, Intensive, Practice for medical research
  5. 2022, Undergraduate Education, Intensive, Practice of Medicine I
  6. 2022, Undergraduate Education, Intensive, Practice of Medicine II
  7. 2022, Graduate Education (Master's Program) , Second Semester, General Clinical Medicine and Dentistry
  8. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  9. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  10. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  11. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  12. 2022, Graduate Education (Master's Program) , First Semester, Basic Human Genetics Practice
  13. 2022, Undergraduate Education, First Semester, Human genetics
  14. 2022, Undergraduate Education, Intensive, Medical Neuroscience II
  15. 2022, Undergraduate Education, Year, Medical Neuroscience III
  16. 2022, Undergraduate Education, Intensive, Practice for medical research
  17. 2022, Undergraduate Education, Intensive, Practice of Medicine I
  18. 2022, Undergraduate Education, Intensive, Practice of Medicine II
  19. 2022, Graduate Education (Master's Program) , Second Semester, General Clinical Medicine and Dentistry
  20. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  21. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  22. 2022, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  23. 2022, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  24. 2022, Graduate Education (Master's Program) , First Semester, Basic Human Genetics Practice

Research Activities

Academic Papers

  1. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions, DIFFERENTIATION, 123, 1-8, 202201
  2. Screening for non-convulsive status epileptics with density spectrum array in critical care EEG., QJM, 114(12), 893-894, 2021
  3. A case of repetitive seizures following immune checkpoint inhibitor therapy as a feature of autoimmune encephalitis., Epileptic Disorders, 23(5), 733-738, 202110
  4. 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
  5. Nationwide online EEG education during coronavirus disease 2019 pandemic., Clinical Neurophysiology, 132, 2763-2765, 2021
  6. Extreme delta brush in anti-NMDAR encephalitis: mimics and chameleons., Epilepsia Open, 6, 443-446, 2021
  7. Emotional facial paresis in temporal lobe epilepsy., Internal Medicien, 60, 2705-2706, 2021
  8. 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
  9. Prospective Memory Deficits in Multiple Sclerosis: Voxel-based Morphometry and Double Inversion Recovery Analysis, INTERNAL MEDICINE, 60(1), 39-46, 2021
  10. Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients, NEUROPATHOLOGY, 41(1), 29-36, 202102
  11. Association between stroke lesions and videofluoroscopic findings in acute stroke patients, JOURNAL OF NEUROLOGY, 268(3), 1025-1035, 202103
  12. Low-dose Contrast-induced Encephalopathy During Diagnostic Cerebral Angiography, INTERNAL MEDICINE, 60(4), 629-633, 2021
  13. 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
  14. The Effect of Electrical Muscle Stimulation on Muscle Mass and Balance in Older Adults with Dementia, BRAIN SCIENCES, 11(3), 202103
  15. cnm-Positive Streptococcus mutans and diffusion-weighted imaging hyperintensities in acute intracerebral hemorrhage, EUROPEAN JOURNAL OF NEUROLOGY, 28(5), 1581-1589, 202105
  16. 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
  17. Socio-economic impact on epilepsy outside of the nation-wide COVID-19 pandemic area, EPILEPSY & BEHAVIOR, 117, 202104
  18. Impact of anatomical variations on ultrasonographic reference values of lower extremity peripheral nerves, MUSCLE & NERVE, 63(6), 890-896, 202106
  19. Giant Cell Arteritis with Internal Carotid Artery Occlusion in the Absence of Typical Clinical Features, INTERNAL MEDICINE, 60(8), 1293-1297, 202104
  20. Optineurin defects cause TDP43-pathology with autophagic vacuolar formation, NEUROBIOLOGY OF DISEASE, 148, 202101
  21. Rapid ping-pong eye deviation following a recovery from carbon dioxide narcosis, BMJ CASE REPORTS, 14(3), 202103
  22. 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
  23. RNF213 p.R4810K (c.14429G > A) Variant Determines Anatomical Variations of the Circle of Willis in Cerebrovascular Disease, FRONTIERS IN AGING NEUROSCIENCE, 13, 20210715
  24. Influence of current and previous smoking on current phenotype in Parkinson's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 427, 20210815
  25. Analysis of genetic risk factors in Japanese patients with Parkinson's disease, JOURNAL OF HUMAN GENETICS, 66(10), 957-964, 202110
  26. 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
  27. Association between the Degree of Pre-Synaptic Dopaminergic Pathway Degeneration and Motor Unit Firing Behavior in Parkinson's Disease Patients, SENSORS, 21(19), 202110
  28. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report, BMC NEUROLOGY, 21(1), 20211012
  29. 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
  30. Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging, NEUROLOGY-GENETICS, 7(4), 202108
  31. 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
  32. 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
  33. Efficacy of Lacosamide in a Patient with Refractory Generalized Epilepsy Based on Video Electroencephalography, INTERNAL MEDICINE, 60(22), 3621-3624, 2021
  34. 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
  35. 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
  36. 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
  37. Effect of tooth loss and nutritional status on outcomes after ischemic stroke, NUTRITION, 71, 110606, 202003
  38. 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
  39. 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
  40. 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
  41. 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
  42. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6(1), e396, 202002
  43. 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
  44. Serum immunoglobulin G antibody titer to Fusobacterium nucleatum is associated with unfavorable outcome after stroke, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 200(3), 302-309, 202006
  45. Anti-HMGCR Antibody-Positive Myopathy Shows Bcl-2-Positive Inflammation and Lymphocytic Accumulations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 79(4), 448-457, 202004
  46. 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
  47. Measurement of the length of vertebrobasilar arteries: A three-dimensional approach, JOURNAL OF THE NEUROLOGICAL SCIENCES, 414(116818), 20200715
  48. 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
  49. Conus Medullaris Infarction Involving the Paraspinal Muscles and Nerve Roots, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 29(8), 104983, 202008
  50. Serum IgG titers to periodontal pathogens predict 3-month outcome in ischemic stroke patients, PLOS ONE, 15(8), e0237185, 20200806
  51. Association between periodontal disease due to Campylobacter rectus and cerebral microbleeds in acute stroke patients, PLOS ONE, 15(10), e0239773, 20201008
  52. Serum IgG titers against periodontal pathogens are associated with cerebral hemorrhage growth and 3-month outcome, PLOS ONE, 15(10), e0237185, 20201028
  53. 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
  54. Delayed Swallowing Reflex is Overlooked in Swallowing Screening Among Acute Stroke Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 29(12), 105303, 202012
  55. Effects of vascular compression on the rostral ventrolateral medulla for blood pressure variability in stroke patients, JOURNAL OF HYPERTENSION, 38(12), 2443-2450, 202012
  56. Prognostic role of the controlling nutritional status score in acute ischemic stroke among stroke subtypes, JOURNAL OF THE NEUROLOGICAL SCIENCES, 416, 116984, 20200915
  57. Lobar microbleeds are associated with cognitive impairment in patients with lacunar infarction, SCIENTIFIC REPORTS, 10(1), 20201002
  58. 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
  59. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39(1), 47-53, 201902
  60. A rational, multispectral mapping algorithm for primary motor cortex: A primary step before cortical stimulation, EPILEPSIA, 60(3), 547-559, 201903
  61. 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
  62. 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
  63. 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
  64. Metastatic Malignant Lymphoma Mimicking Cerebral Toxoplasmosis with the "Target Sign", INTERNAL MEDICINE, 58(8), 1157-1162, 2019
  65. Cumulative Effects of LDL Cholesterol and CRP Levels on Recurrent Stroke and TIA, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 26(5), 432-441, 2019
  66. Warm Front Passage on the Previous Day Increased Ischemic Stroke Events, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 28(7), 1873-1878, 201907
  67. 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
  68. A mutant MATR3 mouse model to explain multisystem proteinopathy, JOURNAL OF PATHOLOGY, 249(2), 182-192, 201910
  69. Usefulness of Histogram-Profile Analysis in Ring-Enhancing Intracranial Lesions, WORLD NEUROSURGERY, 131, E226-E236, 201911
  70. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy, LABORATORY INVESTIGATION, 99(11), 1728-1740, 201911
  71. A score to map the lateral nonprimary motor area: Multispectrum intrinsic brain activity versus cortical stimulation, EPILEPSIA, 60(11), 2294-2305, 201911
  72. Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis, STROKE, 50(6), 1561-1563, 201906
  73. Baseline Carotid Intima-Media Thickness and Stroke Recurrence During Secondary Prevention With Pravastatin, STROKE, 50(6), 1586-1589, 201906
  74. Steroid-responsive Nivolumab-induced Involuntary Movement with Anti-thyroid Antibodies, INTERNAL MEDICINE, 58(24), 3577-3581, 2019
  75. Abscess formation in metastatic brain tumor with history of immune checkpoint inhibitor: A case report., NMC Case Report Journal, 6(1), 11-15, 201901
  76. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of the Neurological Sciences, 396, 119-120, 2019
  77. 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
  78. 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
  79. Impact of D-dimer levels for short-term or long-term outcomes in cryptogenic stroke patients, JOURNAL OF NEUROLOGY, 265(3), 628-636, 201803
  80. Blood Pressure Variability in Acute Ischemic Stroke: Influence of Infarct Location in the Insular Cortex, EUROPEAN NEUROLOGY, 79(1-2), 90-99, 201801
  81. Alpha-2-macroglobulin as a Promising Biological Marker of Endothelial Function, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 25(4), 350-358, 2018
  82. 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
  83. 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
  84. 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
  85. 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
  86. 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
  87. Flip-Flop Phenomenon: Swallowing-Induced Arterial Displacement as an Indicator of Carotid Artery Disease, CEREBROVASCULAR DISEASES, 45(5-6), 258-262, 2018
  88. Antithrombotic Therapy Strategy for Cancer-Associated Ischemic Stroke: A Case Series of 26 Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 27(9), E206-E211, 201809
  89. The effect of medication on vastus lateralis muscle activation patterns in Parkinson's disease patients, JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY, 42, 66-73, 201810
  90. Muscle-dominant wild-type TDP-43 expression induces myopathological changes featuring tubular aggregates and TDP-43-positive inclusions, EXPERIMENTAL NEUROLOGY, 309, 169-180, 201811
  91. 4 ',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits, JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 66(10), 737-751, 201810
  92. Controlling nutritional status score for predicting 3-mo functional outcome in acute ischemic stroke, NUTRITION, 55-56, 1-6, 2018
  93. 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
  94. 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
  95. 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
  96. Pyrimethamine-indeuced transient leukoencephalopathy: similarity to methotrexate encephalopathy., Neurology and Clinical Neuroscience, 5(1/2), 75-75, 201704
  97. 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
  98. 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
  99. 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
  100. 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
  101. Various meteorological conditions exhibit both immediate and delayed influences on the risk of stroke events: The HEWS-stroke study, PLOS ONE, 12(5), 20170602
  102. Maximum tongue pressure is associated with swallowing dysfunction in ALS patients., Dysphagia, 32(4), 542-547, 201708
  103. 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
  104. 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
  105. 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
  106. Tongue thickness evaluation using ultrasonography can predict swallowing function in amyotrophic lateral sclerosis patients, CLINICAL NEUROPHYSIOLOGY, 127(2), 1669-1674, 201602
  107. Translocated in liposarcoma regulates the distribution and function of mammalian enabled, a modulator of actin dynamics, FEBS JOURNAL, 283(8), 1475-1487, 201604
  108. The multidisciplinary swallowing team approach decreases pneumonia onset in acute stroke patients., PLoS One, 11(5), e0154608, 201605
  109. Temporal Trends in Stroke Severity and Prior Antithrombotic Use Among Acute Ischemic Stroke Patients in Japan, CIRCULATION JOURNAL, 80(9), 2033-2036, 201609
  110. 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
  111. Prediction of Pneumonia in Acute Stroke Patients Using Tongue Pressure Measurements, PLOS ONE, 11(11), e0165837, 20161101
  112. 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
  113. Endothelial dysfunction is associated with the severity of cerebral small vessel disease, HYPERTENSION RESEARCH, 38(4), 291-297, 201504
  114. 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
  115. The Japan Statin Treatment against Recurrent Stroke (J-STARS): a multicenter, randomized, open-label, parallel-group study., EBioMedicine, 2(9), 1071-1078, 2015
  116. 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
  117. 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
  118. 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
  119. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14(1), 5, 20140107
  120. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
  121. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
  122. Fiber Type-Specific Expression of Low-Density Lipoprotein Receptor-Related Protein 6 in Human Skeletal Muscles, PATHOBIOLOGY, 81(2), 94-99, 2014
  123. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
  124. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
  125. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
  126. Paroxysmal dysarthria and ataxia in chronic lymphocyticinflammation with pontine perivascular enhancementresponsive to steroids, Neurology and Clinical Neuroscience, 2(1), 13-15, 20140201
  127. 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
  128. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 1780.e1-1780.e5, 201407
  129. 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
  130. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 2054-2061, 20141125
  131. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
  132. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
  133. 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
  134. Molecular Markers for Granulovacuolar Degeneration Are Present in Rimmed Vacuoles, PLOS ONE, 8(11), e80995, 20131128
  135. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
  136. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
  137. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
  138. 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
  139. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
  140. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
  141. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 1923.e9-1923.e10, 201110
  142. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, 20111121
  143. 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
  144. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
  145. 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
  146. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
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  148. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
  149. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
  150. 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
  151. 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
  152. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414(1), 71-74, 20070227
  153. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67(4), 697-699, 20060822
  154. 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
  155. 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
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  158. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358(2), 107-110, 20040325
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  170. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57(2), 337-339, 20010724
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  173. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
  174. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
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  180. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 1154-1156, 19960401
  181. 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
  182. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
  183. ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
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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


  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, 2023/03, Center for Intractable Disease Control (Hiroshima)

History as Peer Reviews of Academic Papers

  1. 2021, Journal of the Neurological Sciences, Others, Reviewer, 1
  2. 2021, Acta Neurologica Belgica, Others, Reviewer, 2
  3. 2021, Journal of Biochemistry, Others, reviewer, 1
  4. 2021, Journal of Affective Disorders, Others, reviewer, 1
  5. 2021, Internal Medicine, Others, reviewer, 2
  6. 2021, Neurotherapeutics, Others, reviewer, 1
  7. 2021, Hiroshima Journal of Medical Sciences, Editor, Associate Editors
  8. 2021, Current Drug Targets, Others, reviewer, 1