Hirofumi Maruyama

Last Updated :2025/06/10

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. 2025, Undergraduate Education, First Semester, Human genetics
  2. 2025, Undergraduate Education, Intensive, Medical Neuroscience II
  3. 2025, Undergraduate Education, Year, Medical Neuroscience III
  4. 2025, Undergraduate Education, Intensive, Practice for medical research
  5. 2025, Undergraduate Education, Intensive, Practice of Medicine I
  6. 2025, Undergraduate Education, Intensive, Practice of Medicine II
  7. 2025, Graduate Education (Master's Program) , Second Semester, General Clinical Medicine and Dentistry
  8. 2025, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  9. 2025, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
  10. 2025, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  11. 2025, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Clinical Neuroscience and Therapeutics
  12. 2025, Graduate Education (Master's Program) , First Semester, Basic Human Genetics Practice

Research Activities

Academic Papers

  1. Intravenous Thrombolysis for Pediatric Ischemic Stroke Secondary to Cancer Therapy-related Cardiac Dysfunction, INTERNAL MEDICINE, 64(2), 287-291, 2025
  2. Relationships between dysarthria, lesion location, and oral/swallowing function in patients with first-ever stroke, CLINICAL NEUROLOGY AND NEUROSURGERY, 254, 108929, 202507
  3. Intracellular anionic substances cause tau liquid-liquid phase separation, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 757, 151605, 20250409
  4. Early initiation of intravenous cyclophosphamide and one-year outcome in super-refractory cryptogenic-new onset refractory status epilepticus, EPILEPSIA OPEN, 10(1), 307-313, 202502
  5. Screening of toxic-metabolic encephalopathy with and without epileptic seizure with density spectral array, JOURNAL OF THE NEUROLOGICAL SCIENCES, 472, 123462, 20250515
  6. Investigation of the improvement of swallowing function with low-frequency pulse waves or interference waves delivered via cervical electrical stimulation in patients with Parkinson's disease: A randomized controlled study protocol, CONTEMPORARY CLINICAL TRIALS COMMUNICATIONS, 44, 101463, 202504
  7. Alpha-band activity in density spectral array predictive for neurological outcome in patients with hypoxic-ischemic encephalopathy, CLINICAL NEUROLOGY AND NEUROSURGERY, 250, 108791, 202503
  8. Presenteeism in people with previous and current epilepsy: Determinants and psychosocial associations, SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 125, 16-22, 202502
  9. Pitfalls of the E-Ref Procedure: Tie Values and the Proportion of the Abnormal Data, MUSCLE & NERVE, 71(3), 435-441, 202503
  10. Fusobacterium nucleatum in the oral cavity is associated with cerebral small vessel disease in patients with ischemic stroke, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 34(1), 108183, 202501
  11. Long-term changes in carotid intima-media thickness according to baseline blood pressure level: J-STARS Echo study, JOURNAL OF THE NEUROLOGICAL SCIENCES, 468, 123342, 20250115
  12. Time-course assessment of oral intake function and its impact on end-of-life in older individuals over 90 years with frailty, GERIATRICS & GERONTOLOGY INTERNATIONAL, 25(1), 96-101, 202501
  13. A single-center, single-arm, prospective, open-label, and comparative trial to evaluate the safety and tolerability profile of a 90-day oral L-arginine hydrochloride intervention for patients with amyotrophic lateral sclerosis, SCIENTIFIC REPORTS, 15(1), 1120, 20250107
  14. Myelin measurement in amyotrophic lateral sclerosis with synthetic MRI: A potential diagnostic and predictive method, JOURNAL OF THE NEUROLOGICAL SCIENCES, 468, 123337, 20250115
  15. Oral condition at admission predicts functional outcomes and hospital-acquired pneumonia development among acute ischemic stroke patients, CLINICAL ORAL INVESTIGATIONS, 28(8), 434, 20240719
  16. Interictal head-turning sign in patients with idiopathic generalized epilepsy during initial medical interview: A matched multicenter study, EPILEPSY & BEHAVIOR, 160, 110039, 202411
  17. Protocol for a phase 2 study of bosutinib for amyotrophic lateral sclerosis using real-world data: induced pluripotent stem cell-based drug repurposing for amyotrophic lateral sclerosis medicine (iDReAM) study, BMJ OPEN, 14(10), e082142, 20241022
  18. High-density surface electromyography evaluation of the suprahyoid muscles in patients with Parkinson's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 466, 123266, 20241115
  19. Transcutaneous auricular vagus nerve stimulation enhances short-latency afferent inhibition via central cholinergic system activation, SCIENTIFIC REPORTS, 14(1), 11224, 20240516
  20. Worsening of myasthenic symptoms associated with statins, JOURNAL OF THE NEUROLOGICAL SCIENCES, 464, 123145, 20240915
  21. Progressive multifocal leukoencephalopathy associated with systemic lupus erythematosus: longitudinal observation of lymphocytes, JC virus in cerebrospinal fluid, and brain magnetic resonance imaging, JOURNAL OF NEUROVIROLOGY, 30(2), 197-201, 202404
  22. Vagus nerve size determined via ultrasonography is associated with white matter lesions in patients with vascular risk factors, JOURNAL OF ULTRASOUND, 27(3), 723-732, 202409
  23. Clinical manifestations and outcomes associated with a high 2HELPS2B score in patients with acute impaired consciousness, JOURNAL OF THE NEUROLOGICAL SCIENCES, 465, 123174, 20241015
  24. Analysis of the suprahyoid muscles during tongue elevation: High-density surface electromyography as a novel tool for swallowing-related muscle assessment, JOURNAL OF ORAL REHABILITATION, 51(9), 1872-1880, 202409
  25. Redefined giant somatosensory evoked potentials: Evoked epileptic complexes of excitatory and inhibitory components, CLINICAL NEUROPHYSIOLOGY, 164, 119-129, 202408
  26. Detection of episodic nocturnal hypercapnia in patients with neurodegenerative disorders, SLEEP AND BREATHING, 28(1), 393-399, 202403
  27. Emergency medical service response for cases of stroke-suspected seizure: A population-based study, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 33(6), 107681, 202406
  28. Cervical percutaneous interferential current stimulation improves citric acid cough tests in patients with Parkinson's disease on medication, SCIENTIFIC REPORTS, 14(1), 11386, 20240518
  29. Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation, MOVEMENT DISORDERS CLINICAL PRACTICE, 11(6), 720-727, 202406
  30. 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
  31. Chronic Visual Abnormality in an Elderly Patient With Temporal Lobe Epilepsy, CUREUS JOURNAL OF MEDICAL SCIENCE, 16(3), e56696, 20240322
  32. Association between motor symptoms of Parkinson's disease and swallowing disorders, NEUROLOGICAL SCIENCES, 45(5), 2021-2026, 202405
  33. An Early Neurological Indicator of Immune Effector Cell-Associated Neurotoxicity Syndrome, CUREUS JOURNAL OF MEDICAL SCIENCE, 16(3), e57298, 20240330
  34. Diffusion-Weighted Imaging Hyperintensities in Acute and Subacute-Phase Intracerebral Hemorrhage, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 31(8), 106549, 202208
  35. Short-term or long-term outcomes for stroke patients with cancer according to biological markers, JOURNAL OF THE NEUROLOGICAL SCIENCES, 436, 120246, 20220515
  36. Impact of the RNF213 p.R4810K Variant on Endovascular Therapy for Large-Vessel Occlusion Stroke, STROKE-VASCULAR AND INTERVENTIONAL NEUROLOGY, 2(6), e000396, 202211
  37. 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
  38. 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
  39. 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
  40. Density spectrum array and difficult to diagnose seizure activity, QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 116(11), 947-948, 202311
  41. On-scene time delays for epileptic seizures in developed community-based integrated care system regions, EPILEPSY & BEHAVIOR, 151, 109612, 202402
  42. Liver fibrosis index is associated with functional outcome among acute ischemic stroke patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 33(2), 107537, 202402
  43. 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
  44. 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
  45. Peak expiratory flow, but not tongue pressure, can predict pneumonia development in older adults, EUROPEAN GERIATRIC MEDICINE, 14(1), 211-217, 202302
  46. Attacks With Urinary Incontinence Without Convulsions: Complete Atrioventricular Block Mimicking an Epileptic Seizure, CUREUS JOURNAL OF MEDICAL SCIENCE, 15(11), e49552, 20231128
  47. 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
  48. Swallowing sound index analysis using electronic stethoscope and artificial intelligence for patients with Parkinson's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 454, 120831, 20231115
  49. 'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy, BRAIN COMMUNICATIONS, 5(6), fcad281, 20231101
  50. Antibody-recognizing residues 188-211 of TMEM106B exhibit immunohistochemical reactivity with the TMEM106B C-terminal fragment, FRONTIERS IN NEUROSCIENCE, 17, 1250547, 20231023
  51. Swallowing sound evaluation using an electronic stethoscope and artificial intelligence analysis for patients with amyotrophic lateral sclerosis, FRONTIERS IN NEUROLOGY, 14, 1212024, 20230803
  52. 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
  53. Exacerbation of Repetitive Falls Due to Atonic Seizures Following Perampanel Administration, CUREUS JOURNAL OF MEDICAL SCIENCE, 15(6), e40818, 20230622
  54. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis, AMERICAN JOURNAL OF HUMAN GENETICS, 110(7), 1086-1097, 20230706
  55. Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection, PLOS ONE, 18(6), e0287545, 20230623
  56. 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
  57. 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
  58. Reversible Brain Atrophy in Cryptogenic New-onset Refractory Status Epilepticus, INTERNAL MEDICINE, 62(12), 1835-1842, 2023
  59. Nerve Ultrasonography for the Diagnosis and Evaluation of Neuralgic Amyotrophy, INTERNAL MEDICINE, 62(12), 1843-1847, 2023
  60. On-scene time delays for epileptic seizures in emergencies during a social pandemic: A population-based study, EPILEPSY & BEHAVIOR, 142, 109211, 202305
  61. A case of ischemic stroke associated with protein-losing gastroenteropathy and protein S deficiency, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 32(7), 107151, 202307
  62. Paradoxical effects of levetiracetam in people with epilepsy with rhythmic epileptiform discharges, EPILEPSY & BEHAVIOR, 143, 109225, 202306
  63. 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
  64. Features of repetitive nerve stimulation and nerve conduction studies in patients with amyotrophic lateral sclerosis, NEUROLOGY AND CLINICAL NEUROSCIENCE, 11(3), 134-139, 202305
  65. Encephalopathy after COVID-19 vaccination during treatment with nivolumab: A case report, CLINICAL NEUROLOGY AND NEUROSURGERY, 226, 107632, 202303
  66. 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
  67. 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
  68. 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
  69. 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
  70. 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
  71. Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients, JOURNAL OF HUMAN GENETICS, 68(2), 91-95, 202302
  72. Are patients with Parkinson's disease at a lower risk of catching the common cold? Propensity score matching, PARKINSONISM & RELATED DISORDERS, 106, 105227, 202301
  73. Detecting motor unit abnormalities in amyotrophic lateral sclerosis using high-density surface EMG, CLINICAL NEUROPHYSIOLOGY, 142, 262-272, 202210
  74. TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis, JAMA NEUROLOGY, 79(7), 693-701, 202207
  75. Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis A Randomized Clinical Trial, JAMA NEUROLOGY, 79(6), 575-583, 202206
  76. 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
  77. Various effects of nutritional status on clinical outcomes after intracerebral hemorrhage, INTERNAL AND EMERGENCY MEDICINE, 17(4), 1043-1052, 202206
  78. 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
  79. Clinical characteristics and tumor markers in ischemic stroke patients with active cancer, INTERNAL AND EMERGENCY MEDICINE, 17(3), 735-741, 202204
  80. Autopsy Validation of the Diagnostic Accuracy of I-123-Metaiodobenzylguanidine Myocardial Scintigraphy for Lewy Body Disease, NEUROLOGY, 98(16), E1648-E1659, 20220419
  81. Clinical Factors Predicting Voluntary Driving Cessation among Patients with Parkinson's Disease, BEHAVIOURAL NEUROLOGY, 2022, 804702, 20220320
  82. Characteristics of cause of death and triggers for crisis in patients with myasthenia gravis, NEUROLOGY AND CLINICAL NEUROSCIENCE, 10(3), 147-154, 202205
  83. Seizure Deterioration with Increased Levetiracetam Blood Concentration during the Postpartum Period in Refractory Temporal Lobe Epilepsy, INTERNAL MEDICINE, 61(8), 1237-1240, 2022
  84. 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
  85. 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
  86. Amyloid Beta Is Internalized via Macropinocytosis, an HSPG- and Lipid Raft-Dependent and Rac1-Mediated Process, FRONTIERS IN MOLECULAR NEUROSCIENCE, 15, 804702, 20220211
  87. 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
  88. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions, DIFFERENTIATION, 123, 1-8, 202201
  89. Screening for non-convulsive status epileptics with density spectrum array in critical care EEG., QJM, 114(12), 893-894, 2021
  90. A case of repetitive seizures following immune checkpoint inhibitor therapy as a feature of autoimmune encephalitis., Epileptic Disorders, 23(5), 733-738, 202110
  91. 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
  92. Nationwide online EEG education during coronavirus disease 2019 pandemic., Clinical Neurophysiology, 132, 2763-2765, 2021
  93. Extreme delta brush in anti-NMDAR encephalitis: mimics and chameleons., Epilepsia Open, 6, 443-446, 2021
  94. Emotional facial paresis in temporal lobe epilepsy., Internal Medicien, 60, 2705-2706, 2021
  95. 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
  96. Prospective Memory Deficits in Multiple Sclerosis: Voxel-based Morphometry and Double Inversion Recovery Analysis, INTERNAL MEDICINE, 60(1), 39-46, 2021
  97. Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients, NEUROPATHOLOGY, 41(1), 29-36, 202102
  98. Association between stroke lesions and videofluoroscopic findings in acute stroke patients, JOURNAL OF NEUROLOGY, 268(3), 1025-1035, 202103
  99. Low-dose Contrast-induced Encephalopathy During Diagnostic Cerebral Angiography, INTERNAL MEDICINE, 60(4), 629-633, 2021
  100. 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
  101. The Effect of Electrical Muscle Stimulation on Muscle Mass and Balance in Older Adults with Dementia, BRAIN SCIENCES, 11(3), 202103
  102. cnm-Positive Streptococcus mutans and diffusion-weighted imaging hyperintensities in acute intracerebral hemorrhage, EUROPEAN JOURNAL OF NEUROLOGY, 28(5), 1581-1589, 202105
  103. 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
  104. Socio-economic impact on epilepsy outside of the nation-wide COVID-19 pandemic area, EPILEPSY & BEHAVIOR, 117, 202104
  105. Impact of anatomical variations on ultrasonographic reference values of lower extremity peripheral nerves, MUSCLE & NERVE, 63(6), 890-896, 202106
  106. Giant Cell Arteritis with Internal Carotid Artery Occlusion in the Absence of Typical Clinical Features, INTERNAL MEDICINE, 60(8), 1293-1297, 202104
  107. Optineurin defects cause TDP43-pathology with autophagic vacuolar formation, NEUROBIOLOGY OF DISEASE, 148, 202101
  108. Rapid ping-pong eye deviation following a recovery from carbon dioxide narcosis, BMJ CASE REPORTS, 14(3), 202103
  109. 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
  110. RNF213 p.R4810K (c.14429G > A) Variant Determines Anatomical Variations of the Circle of Willis in Cerebrovascular Disease, FRONTIERS IN AGING NEUROSCIENCE, 13, 20210715
  111. Influence of current and previous smoking on current phenotype in Parkinson's disease, JOURNAL OF THE NEUROLOGICAL SCIENCES, 427, 20210815
  112. Analysis of genetic risk factors in Japanese patients with Parkinson's disease, JOURNAL OF HUMAN GENETICS, 66(10), 957-964, 202110
  113. 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
  114. Association between the Degree of Pre-Synaptic Dopaminergic Pathway Degeneration and Motor Unit Firing Behavior in Parkinson's Disease Patients, SENSORS, 21(19), 202110
  115. FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report, BMC NEUROLOGY, 21(1), 20211012
  116. 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
  117. Case of Neuronal Intranuclear Inclusion Disease With Dynamic Perfusion Changes Lacking Typical Signs on Diffusion-Weighted Imaging, NEUROLOGY-GENETICS, 7(4), 202108
  118. 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
  119. 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
  120. Efficacy of Lacosamide in a Patient with Refractory Generalized Epilepsy Based on Video Electroencephalography, INTERNAL MEDICINE, 60(22), 3621-3624, 2021
  121. 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
  122. 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
  123. 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
  124. Effect of tooth loss and nutritional status on outcomes after ischemic stroke, NUTRITION, 71, 110606, 202003
  125. 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
  126. 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
  127. 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
  128. 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
  129. Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6(1), e396, 202002
  130. 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
  131. Serum immunoglobulin G antibody titer to Fusobacterium nucleatum is associated with unfavorable outcome after stroke, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 200(3), 302-309, 202006
  132. Anti-HMGCR Antibody-Positive Myopathy Shows Bcl-2-Positive Inflammation and Lymphocytic Accumulations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 79(4), 448-457, 202004
  133. 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
  134. Measurement of the length of vertebrobasilar arteries: A three-dimensional approach, JOURNAL OF THE NEUROLOGICAL SCIENCES, 414(116818), 20200715
  135. 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
  136. Conus Medullaris Infarction Involving the Paraspinal Muscles and Nerve Roots, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 29(8), 104983, 202008
  137. Serum IgG titers to periodontal pathogens predict 3-month outcome in ischemic stroke patients, PLOS ONE, 15(8), e0237185, 20200806
  138. Association between periodontal disease due to Campylobacter rectus and cerebral microbleeds in acute stroke patients, PLOS ONE, 15(10), e0239773, 20201008
  139. Serum IgG titers against periodontal pathogens are associated with cerebral hemorrhage growth and 3-month outcome, PLOS ONE, 15(10), e0237185, 20201028
  140. 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
  141. Delayed Swallowing Reflex is Overlooked in Swallowing Screening Among Acute Stroke Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 29(12), 105303, 202012
  142. Effects of vascular compression on the rostral ventrolateral medulla for blood pressure variability in stroke patients, JOURNAL OF HYPERTENSION, 38(12), 2443-2450, 202012
  143. Prognostic role of the controlling nutritional status score in acute ischemic stroke among stroke subtypes, JOURNAL OF THE NEUROLOGICAL SCIENCES, 416, 116984, 20200915
  144. Lobar microbleeds are associated with cognitive impairment in patients with lacunar infarction, SCIENTIFIC REPORTS, 10(1), 20201002
  145. 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
  146. Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39(1), 47-53, 201902
  147. A rational, multispectral mapping algorithm for primary motor cortex: A primary step before cortical stimulation, EPILEPSIA, 60(3), 547-559, 201903
  148. 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
  149. 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
  150. 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
  151. Metastatic Malignant Lymphoma Mimicking Cerebral Toxoplasmosis with the "Target Sign", INTERNAL MEDICINE, 58(8), 1157-1162, 2019
  152. Cumulative Effects of LDL Cholesterol and CRP Levels on Recurrent Stroke and TIA, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 26(5), 432-441, 2019
  153. Warm Front Passage on the Previous Day Increased Ischemic Stroke Events, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 28(7), 1873-1878, 201907
  154. 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
  155. A mutant MATR3 mouse model to explain multisystem proteinopathy, JOURNAL OF PATHOLOGY, 249(2), 182-192, 201910
  156. Usefulness of Histogram-Profile Analysis in Ring-Enhancing Intracranial Lesions, WORLD NEUROSURGERY, 131, E226-E236, 201911
  157. Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy, LABORATORY INVESTIGATION, 99(11), 1728-1740, 201911
  158. A score to map the lateral nonprimary motor area: Multispectrum intrinsic brain activity versus cortical stimulation, EPILEPSIA, 60(11), 2294-2305, 201911
  159. Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis, STROKE, 50(6), 1561-1563, 201906
  160. Baseline Carotid Intima-Media Thickness and Stroke Recurrence During Secondary Prevention With Pravastatin, STROKE, 50(6), 1586-1589, 201906
  161. Steroid-responsive Nivolumab-induced Involuntary Movement with Anti-thyroid Antibodies, INTERNAL MEDICINE, 58(24), 3577-3581, 2019
  162. Abscess formation in metastatic brain tumor with history of immune checkpoint inhibitor: A case report., NMC Case Report Journal, 6(1), 11-15, 201901
  163. Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of the Neurological Sciences, 396, 119-120, 2019
  164. 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
  165. 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
  166. Impact of D-dimer levels for short-term or long-term outcomes in cryptogenic stroke patients, JOURNAL OF NEUROLOGY, 265(3), 628-636, 201803
  167. Blood Pressure Variability in Acute Ischemic Stroke: Influence of Infarct Location in the Insular Cortex, EUROPEAN NEUROLOGY, 79(1-2), 90-99, 201801
  168. Alpha-2-macroglobulin as a Promising Biological Marker of Endothelial Function, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 25(4), 350-358, 2018
  169. 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
  170. 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
  171. 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
  172. 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
  173. 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
  174. Flip-Flop Phenomenon: Swallowing-Induced Arterial Displacement as an Indicator of Carotid Artery Disease, CEREBROVASCULAR DISEASES, 45(5-6), 258-262, 2018
  175. Antithrombotic Therapy Strategy for Cancer-Associated Ischemic Stroke: A Case Series of 26 Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 27(9), E206-E211, 201809
  176. The effect of medication on vastus lateralis muscle activation patterns in Parkinson's disease patients, JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY, 42, 66-73, 201810
  177. Muscle-dominant wild-type TDP-43 expression induces myopathological changes featuring tubular aggregates and TDP-43-positive inclusions, EXPERIMENTAL NEUROLOGY, 309, 169-180, 201811
  178. 4 ',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits, JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 66(10), 737-751, 201810
  179. Controlling nutritional status score for predicting 3-mo functional outcome in acute ischemic stroke, NUTRITION, 55-56, 1-6, 2018
  180. 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
  181. 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
  182. 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
  183. Pyrimethamine-indeuced transient leukoencephalopathy: similarity to methotrexate encephalopathy., Neurology and Clinical Neuroscience, 5(1/2), 75-75, 201704
  184. 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
  185. 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
  186. 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
  187. 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
  188. Various meteorological conditions exhibit both immediate and delayed influences on the risk of stroke events: The HEWS-stroke study, PLOS ONE, 12(5), 20170602
  189. Maximum tongue pressure is associated with swallowing dysfunction in ALS patients., Dysphagia, 32(4), 542-547, 201708
  190. 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
  191. 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
  192. 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
  193. Tongue thickness evaluation using ultrasonography can predict swallowing function in amyotrophic lateral sclerosis patients, CLINICAL NEUROPHYSIOLOGY, 127(2), 1669-1674, 201602
  194. Translocated in liposarcoma regulates the distribution and function of mammalian enabled, a modulator of actin dynamics, FEBS JOURNAL, 283(8), 1475-1487, 201604
  195. The multidisciplinary swallowing team approach decreases pneumonia onset in acute stroke patients., PLoS One, 11(5), e0154608, 201605
  196. Temporal Trends in Stroke Severity and Prior Antithrombotic Use Among Acute Ischemic Stroke Patients in Japan, CIRCULATION JOURNAL, 80(9), 2033-2036, 201609
  197. 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
  198. Prediction of Pneumonia in Acute Stroke Patients Using Tongue Pressure Measurements, PLOS ONE, 11(11), e0165837, 20161101
  199. 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
  200. Endothelial dysfunction is associated with the severity of cerebral small vessel disease, HYPERTENSION RESEARCH, 38(4), 291-297, 201504
  201. 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
  202. The Japan Statin Treatment against Recurrent Stroke (J-STARS): a multicenter, randomized, open-label, parallel-group study., EBioMedicine, 2(9), 1071-1078, 2015
  203. 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
  204. 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
  205. 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
  206. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14(1), 5, 20140107
  207. An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
  208. Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
  209. Fiber Type-Specific Expression of Low-Density Lipoprotein Receptor-Related Protein 6 in Human Skeletal Muscles, PATHOBIOLOGY, 81(2), 94-99, 2014
  210. Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
  211. Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
  212. DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
  213. Paroxysmal dysarthria and ataxia in chronic lymphocyticinflammation with pontine perivascular enhancementresponsive to steroids, Neurology and Clinical Neuroscience, 2(1), 13-15, 20140201
  214. 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
  215. Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 1780.e1-1780.e5, 201407
  216. 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
  217. Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 2054-2061, 20141125
  218. Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
  219. Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
  220. 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
  221. Molecular Markers for Granulovacuolar Degeneration Are Present in Rimmed Vacuoles, PLOS ONE, 8(11), e80995, 20131128
  222. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
  223. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
  224. Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
  225. 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
  226. The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
  227. Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
  228. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 1923.e9-1923.e10, 201110
  229. Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, 20111121
  230. 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
  231. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
  232. 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
  233. The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
  234. ★, Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-226, 20100513
  235. LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
  236. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
  237. 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
  238. 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
  239. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414(1), 71-74, 20070227
  240. Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67(4), 697-699, 20060822
  241. 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
  242. 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
  243. 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
  244. 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
  245. A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358(2), 107-110, 20040325
  246. Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61(6), 933-937, 200406
  247. 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
  248. Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease, MOVEMENT DISORDERS, 18(8), 953-955, 200308
  249. Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 320(1-2), 105-107, 20020301
  250. ★, 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
  251. Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17(4), 808-811, 200207
  252. 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
  253. Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels, JOURNAL OF THE NEUROLOGICAL SCIENCES, 182(2), 167-170, 20010101
  254. 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
  255. Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan, NEUROSCIENCE LETTERS, 300(2), 125-127, 20010309
  256. 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
  257. Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57(2), 337-339, 20010724
  258. ★, Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease, ARCHIVES OF NEUROLOGY, 57(2), 236-240, 200002
  259. 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
  260. Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
  261. Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
  262. CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152(2), 166-171, 19970201
  263. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6(8), 1283-1287, 19970401
  264. 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
  265. Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221, 199-204, 19960401
  266. 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
  267. A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 1154-1156, 19960401
  268. 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
  269. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
  270. ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
  271. Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9(4), 344-345, 19950401
  272. An autopsied case of ADSSL1 myopathy, NEUROMUSCULAR DISORDERS, 31(11), 1220-1225, 202111
  273. Predictors of Stroke Outcome Extracted from Multivariate Linear Discriminant Analysis or Neural Network Analysis, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 29(1), 99-110, 2022

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, 2026/03, 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