Hirofumi Maruyama

Last Updated :2020/10/29

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

Basic Information

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

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. 2020, Undergraduate Education, First Semester, Human genetics
  2. 2020, Undergraduate Education, Year, Clinical diagnosis and treatment I
  3. 2020, Undergraduate Education, Intensive, Introduction to clinical clerkship
  4. 2020, Undergraduate Education, Intensive, Medical Neuroscience II
  5. 2020, Undergraduate Education, Year, Medical Neuroscience III
  6. 2020, Undergraduate Education, Intensive, Practice for medical research
  7. 2020, Graduate Education (Doctoral Program) , First Semester, Advanced seminar on Clinical Neuroscience and Therapeutics
  8. 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced seminar on Clinical Neuroscience and Therapeutics
  9. 2020, Graduate Education (Doctoral Program) , First Semester, Advanced research on Clinical Neuroscience and Therapeutics
  10. 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced research on Clinical Neuroscience and Therapeutics
  11. 2020, Graduate Education (Master's Program) , Second Semester, General Clinical Medicine and Dentistry
  12. 2020, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  13. 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  14. 2020, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  15. 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  16. 2020, Graduate Education (Master's Program) , First Semester, Pathophysiology

Research Activities

Academic Papers

  1. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of the Neurological Sciences, 396, 119-120, 2019
  2. Abscess formation in metastatic brain tumor with history of immune checkpoint inhibitor: A case report., NMC Case Report Journal, 6(1), 11-15, 201901
  3. ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
  4. Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9(4), 344-345, 19950401
  5. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
  6. Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221, 199-204, 19960401
  7. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 1154-1156, 19960401
  8. 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
  9. 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
  10. CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152(2), 166-171, 19970201
  11. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6(8), 1283-1287, 19970401
  12. 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
  13. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
  14. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
  15. 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
  16. ★, Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease, ARCHIVES OF NEUROLOGY, 57(2), 236-240, 200002
  17. Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels, JOURNAL OF THE NEUROLOGICAL SCIENCES, 182(2), 167-170, 20010101
  18. 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
  19. Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan, NEUROSCIENCE LETTERS, 300(2), 125-127, 20010309
  20. 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
  21. 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
  22. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57(2), 337-339, 20010724
  23. Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 320(1-2), 105-107, 20020301
  24. Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17(4), 808-811, 200207
  25. ★, 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
  26. 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
  27. Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease, MOVEMENT DISORDERS, 18(8), 953-955, 200308
  28. 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
  29. 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
  30. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358(2), 107-110, 20040325
  31. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61(6), 933-937, 200406
  32. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67(4), 697-699, 20060822
  33. 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
  34. 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
  35. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414(1), 71-74, 20070227
  36. 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
  37. 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
  38. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
  39. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
  40. ★, Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-226, 20100513
  41. 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
  42. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
  43. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
  44. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
  45. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 1923.e9-1923.e10, 201110
  46. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, 20111121
  47. 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
  48. 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
  49. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
  50. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
  51. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
  52. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
  53. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
  54. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
  55. 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
  56. Molecular Markers for Granulovacuolar Degeneration Are Present in Rimmed Vacuoles, PLOS ONE, 8(11), e80995, 20131128
  57. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14(1), 5, 20140107
  58. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
  59. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
  60. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
  61. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
  62. 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
  63. Paroxysmal dysarthria and ataxia in chronic lymphocyticinflammation with pontine perivascular enhancementresponsive to steroids, Neurology and Clinical Neuroscience, 2(1), 13-15, 20140201
  64. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
  65. Fiber Type-Specific Expression of Low-Density Lipoprotein Receptor-Related Protein 6 in Human Skeletal Muscles, PATHOBIOLOGY, 81(2), 94-99, 2014
  66. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 1780.e1-1780.e5, 201407
  67. 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
  68. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 2054-2061, 20141125
  69. Endothelial dysfunction is associated with the severity of cerebral small vessel disease, HYPERTENSION RESEARCH, 38(4), 291-297, 201504
  70. 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
  71. The Japan Statin Treatment against Recurrent Stroke (J-STARS): a multicenter, randomized, open-label, parallel-group study., EBioMedicine, 2(9), 1071-1078, 2015
  72. 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
  73. 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
  74. 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, 2016
  75. 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
  76. Tongue thickness evaluation using ultrasonography can predict swallowing function in amyotrophic lateral sclerosis patients, CLINICAL NEUROPHYSIOLOGY, 127(2), 1669-1674, 201602
  77. Translocated in liposarcoma regulates the distribution and function of mammalian enabled, a modulator of actin dynamics, FEBS JOURNAL, 283(8), 1475-1487, 201604
  78. The multidisciplinary swallowing team approach decreases pneumonia onset in acute stroke patients., PLoS One, 11(5), e0154608, 2016
  79. Temporal Trends in Stroke Severity and Prior Antithrombotic Use Among Acute Ischemic Stroke Patients in Japan, CIRCULATION JOURNAL, 80(9), 2033-2036, 201609
  80. 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
  81. Prediction of Pneumonia in Acute Stroke Patients Using Tongue Pressure Measurements, PLOS ONE, 11(11), e0165837, 20161101
  82. 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
  83. 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
  84. 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
  85. Pyrimethamine-indeuced transient leukoencephalopathy: similarity to methotrexate encephalopathy., Neurology and Clinical Neuroscience, 5(1/2), 75-75, 201704
  86. 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
  87. 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
  88. 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
  89. 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
  90. Various meteorological conditions exhibit both immediate and delayed influences on the risk of stroke events: The HEWS-stroke study, PLOS ONE, 12(5), 20170602
  91. Maximum tongue pressure is associated with swallowing dysfunction in ALS patients., Dysphagia, 32(4), 542-547, 2017
  92. 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
  93. 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
  94. 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, 2017
  95. 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
  96. Impact of D-dimer levels for short-term or long-term outcomes in cryptogenic stroke patients, JOURNAL OF NEUROLOGY, 265(3), 628-636, 201803
  97. Blood Pressure Variability in Acute Ischemic Stroke: Influence of Infarct Location in the Insular Cortex, EUROPEAN NEUROLOGY, 79(1-2), 90-99, 2018
  98. Alpha-2-macroglobulin as a Promising Biological Marker of Endothelial Function, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 25(4), 350-358, 2018
  99. 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
  100. 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
  101. 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
  102. 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, 2018
  103. 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
  104. Flip-Flop Phenomenon: Swallowing-Induced Arterial Displacement as an Indicator of Carotid Artery Disease, CEREBROVASCULAR DISEASES, 45(5-6), 258-262, 2018
  105. Antithrombotic Therapy Strategy for Cancer-Associated Ischemic Stroke: A Case Series of 26 Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 27(9), E206-E211, 201809
  106. The effect of medication on vastus lateralis muscle activation patterns in Parkinson's disease patients, JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY, 42, 66-73, 201810
  107. Muscle-dominant wild-type TDP-43 expression induces myopathological changes featuring tubular aggregates and TDP-43-positive inclusions, EXPERIMENTAL NEUROLOGY, 309, 169-180, NOV 2018
  108. 4 ',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits, JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 66(10), 737-751, OCT 2018
  109. Controlling nutritional status score for predicting 3-mo functional outcome in acute ischemic stroke, NUTRITION, 55-56, 1-6, 2018
  110. 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
  111. 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
  112. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39(1), 47-53, 201902
  113. A rational, multispectral mapping algorithm for primary motor cortex: A primary step before cortical stimulation, EPILEPSIA, 60(3), 547-559, 201903
  114. 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
  115. 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
  116. 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
  117. Metastatic Malignant Lymphoma Mimicking Cerebral Toxoplasmosis with the "Target Sign", INTERNAL MEDICINE, 58(8), 1157-1162, 2019
  118. Cumulative Effects of LDL Cholesterol and CRP Levels on Recurrent Stroke and TIA, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 26(5), 432-441, 2019
  119. Warm Front Passage on the Previous Day Increased Ischemic Stroke Events, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 28(7), 1873-1878, 201907
  120. 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
  121. A mutant MATR3 mouse model to explain multisystem proteinopathy, JOURNAL OF PATHOLOGY, 249(2), 182-192, 201910
  122. Usefulness of Histogram-Profile Analysis in Ring-Enhancing Intracranial Lesions, WORLD NEUROSURGERY, 131, E226-E236, 201911
  123. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy, LABORATORY INVESTIGATION, 99(11), 1728-1740, 201911
  124. A score to map the lateral nonprimary motor area: Multispectrum intrinsic brain activity versus cortical stimulation, EPILEPSIA, 60(11), 2294-2305, 201911
  125. Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis, STROKE, 50(6), 1561-1563, 201906
  126. Baseline Carotid Intima-Media Thickness and Stroke Recurrence During Secondary Prevention With Pravastatin, STROKE, 50(6), 1586-1589, 201906
  127. Steroid-responsive Nivolumab-induced Involuntary Movement with Anti-thyroid Antibodies, INTERNAL MEDICINE, 58(24), 3577-3581, 2019
  128. 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
  129. Effect of tooth loss and nutritional status on outcomes after ischemic stroke, NUTRITION, 71, 110606, 202003
  130. 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
  131. 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
  132. 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
  133. 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
  134. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6(1), e396, 202002
  135. 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
  136. Serum immunoglobulin G antibody titer to Fusobacterium nucleatum is associated with unfavorable outcome after stroke, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 200(3), 302-309, 202006
  137. Anti-HMGCR Antibody-Positive Myopathy Shows Bcl-2-Positive Inflammation and Lymphocytic Accumulations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 79(4), 448-457, 202004
  138. 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
  139. Measurement of the length of vertebrobasilar arteries: A three-dimensional approach, JOURNAL OF THE NEUROLOGICAL SCIENCES, 414(116818), 20200715
  140. 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
  141. Conus Medullaris Infarction Involving the Paraspinal Muscles and Nerve Roots, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 29(8), 104983, 202008
  142. Serum IgG titers to periodontal pathogens predict 3-month outcome in ischemic stroke patients, PLOS ONE, 15(8), e0237185, 20200806

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, 2021/03, Center for Intractable Disease Control (Hiroshima)

History as Peer Reviews of Academic Papers

  1. 2020, Journal of Human Genetics, Others, reviewer, 1
  2. 2020, Hiroshima Journal of Medical Sciences, Editor, Associate Editors
  3. 2020, American Journal of Neurodegenerative Disease, Editor, Associate Editorial Board