Hirofumi Maruyama
Last Updated :2021/01/12
- Affiliations, Positions
- Graduate School of Biomedical and Health Sciences(Medicine), Professor
- E-mail
- hmaru
hiroshima-u.ac.jp
- 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
- 2020, Undergraduate Education, First Semester, Human genetics
- 2020, Undergraduate Education, Year, Clinical diagnosis and treatment I
- 2020, Undergraduate Education, Intensive, Introduction to clinical clerkship
- 2020, Undergraduate Education, Intensive, Medical Neuroscience II
- 2020, Undergraduate Education, Year, Medical Neuroscience III
- 2020, Undergraduate Education, Intensive, Practice for medical research
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced seminar on Clinical Neuroscience and Therapeutics
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced seminar on Clinical Neuroscience and Therapeutics
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced research on Clinical Neuroscience and Therapeutics
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced research on Clinical Neuroscience and Therapeutics
- 2020, Graduate Education (Master's Program) , Second Semester, General Clinical Medicine and Dentistry
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Clinical Neuroscience and Therapeutics
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Clinical Neuroscience and Therapeutics
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Clinical Neuroscience and Therapeutics
- 2020, Graduate Education (Master's Program) , First Semester, Pathophysiology
Research Activities
Academic Papers
- 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
- Effect of tooth loss and nutritional status on outcomes after ischemic stroke, NUTRITION, 71, 110606, 202003
- 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
- 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
- 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
- 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
- Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6(1), e396, 202002
- 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
- Serum immunoglobulin G antibody titer to Fusobacterium nucleatum is associated with unfavorable outcome after stroke, CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 200(3), 302-309, 202006
- Anti-HMGCR Antibody-Positive Myopathy Shows Bcl-2-Positive Inflammation and Lymphocytic Accumulations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 79(4), 448-457, 202004
- 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
- Measurement of the length of vertebrobasilar arteries: A three-dimensional approach, JOURNAL OF THE NEUROLOGICAL SCIENCES, 414(116818), 20200715
- 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
- Conus Medullaris Infarction Involving the Paraspinal Muscles and Nerve Roots, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 29(8), 104983, 202008
- Serum IgG titers to periodontal pathogens predict 3-month outcome in ischemic stroke patients, PLOS ONE, 15(8), e0237185, 20200806
- Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of the Neurological Sciences, 396, 119-120, 2019
- Abscess formation in metastatic brain tumor with history of immune checkpoint inhibitor: A case report., NMC Case Report Journal, 6(1), 11-15, 201901
- 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
- Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39(1), 47-53, 201902
- A rational, multispectral mapping algorithm for primary motor cortex: A primary step before cortical stimulation, EPILEPSIA, 60(3), 547-559, 201903
- 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
- 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
- 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
- Metastatic Malignant Lymphoma Mimicking Cerebral Toxoplasmosis with the "Target Sign", INTERNAL MEDICINE, 58(8), 1157-1162, 2019
- Cumulative Effects of LDL Cholesterol and CRP Levels on Recurrent Stroke and TIA, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 26(5), 432-441, 2019
- Warm Front Passage on the Previous Day Increased Ischemic Stroke Events, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 28(7), 1873-1878, 201907
- 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
- A mutant MATR3 mouse model to explain multisystem proteinopathy, JOURNAL OF PATHOLOGY, 249(2), 182-192, 201910
- Usefulness of Histogram-Profile Analysis in Ring-Enhancing Intracranial Lesions, WORLD NEUROSURGERY, 131, E226-E236, 201911
- Mitochondrial localization of PABPN1 in oculopharyngeal muscular dystrophy, LABORATORY INVESTIGATION, 99(11), 1728-1740, 201911
- A score to map the lateral nonprimary motor area: Multispectrum intrinsic brain activity versus cortical stimulation, EPILEPSIA, 60(11), 2294-2305, 201911
- Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis, STROKE, 50(6), 1561-1563, 201906
- Baseline Carotid Intima-Media Thickness and Stroke Recurrence During Secondary Prevention With Pravastatin, STROKE, 50(6), 1586-1589, 201906
- Steroid-responsive Nivolumab-induced Involuntary Movement with Anti-thyroid Antibodies, INTERNAL MEDICINE, 58(24), 3577-3581, 2019
- 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
- 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
- Impact of D-dimer levels for short-term or long-term outcomes in cryptogenic stroke patients, JOURNAL OF NEUROLOGY, 265(3), 628-636, 201803
- Blood Pressure Variability in Acute Ischemic Stroke: Influence of Infarct Location in the Insular Cortex, EUROPEAN NEUROLOGY, 79(1-2), 90-99, 2018
- Alpha-2-macroglobulin as a Promising Biological Marker of Endothelial Function, JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 25(4), 350-358, 2018
- 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
- 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
- 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
- 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
- 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
- Flip-Flop Phenomenon: Swallowing-Induced Arterial Displacement as an Indicator of Carotid Artery Disease, CEREBROVASCULAR DISEASES, 45(5-6), 258-262, 2018
- Antithrombotic Therapy Strategy for Cancer-Associated Ischemic Stroke: A Case Series of 26 Patients, JOURNAL OF STROKE & CEREBROVASCULAR DISEASES, 27(9), E206-E211, 201809
- The effect of medication on vastus lateralis muscle activation patterns in Parkinson's disease patients, JOURNAL OF ELECTROMYOGRAPHY AND KINESIOLOGY, 42, 66-73, 201810
- 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
- 4 ',6-Diamidino-2-Phenylindole Distinctly Labels Tau Deposits, JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 66(10), 737-751, OCT 2018
- Controlling nutritional status score for predicting 3-mo functional outcome in acute ischemic stroke, NUTRITION, 55-56, 1-6, 2018
- 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
- 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
- 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
- Pyrimethamine-indeuced transient leukoencephalopathy: similarity to methotrexate encephalopathy., Neurology and Clinical Neuroscience, 5(1/2), 75-75, 201704
- 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
- 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
- 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
- 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
- Various meteorological conditions exhibit both immediate and delayed influences on the risk of stroke events: The HEWS-stroke study, PLOS ONE, 12(5), 20170602
- Maximum tongue pressure is associated with swallowing dysfunction in ALS patients., Dysphagia, 32(4), 542-547, 2017
- 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
- 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
- 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
- Tongue thickness evaluation using ultrasonography can predict swallowing function in amyotrophic lateral sclerosis patients, CLINICAL NEUROPHYSIOLOGY, 127(2), 1669-1674, 201602
- Translocated in liposarcoma regulates the distribution and function of mammalian enabled, a modulator of actin dynamics, FEBS JOURNAL, 283(8), 1475-1487, 201604
- The multidisciplinary swallowing team approach decreases pneumonia onset in acute stroke patients., PLoS One, 11(5), e0154608, 2016
- Temporal Trends in Stroke Severity and Prior Antithrombotic Use Among Acute Ischemic Stroke Patients in Japan, CIRCULATION JOURNAL, 80(9), 2033-2036, 201609
- 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
- Prediction of Pneumonia in Acute Stroke Patients Using Tongue Pressure Measurements, PLOS ONE, 11(11), e0165837, 20161101
- 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
- Endothelial dysfunction is associated with the severity of cerebral small vessel disease, HYPERTENSION RESEARCH, 38(4), 291-297, 201504
- 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
- The Japan Statin Treatment against Recurrent Stroke (J-STARS): a multicenter, randomized, open-label, parallel-group study., EBioMedicine, 2(9), 1071-1078, 2015
- 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
- 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
- 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
- Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14(1), 5, 20140107
- Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
- DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
- An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
- Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
- Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia, JOURNAL OF THE NEUROLOGICAL SCIENCES, 337(1-2), 219-223, 20140215
- Paroxysmal dysarthria and ataxia in chronic lymphocyticinflammation with pontine perivascular enhancementresponsive to steroids, Neurology and Clinical Neuroscience, 2(1), 13-15, 20140201
- Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
- Fiber Type-Specific Expression of Low-Density Lipoprotein Receptor-Related Protein 6 in Human Skeletal Muscles, PATHOBIOLOGY, 81(2), 94-99, 2014
- Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 1780.e1-1780.e5, 201407
- A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state, NEUROPATHOLOGY, 34(5), 504-509, 201410
- Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 2054-2061, 20141125
- Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
- Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
- Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
- Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
- Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
- 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
- Molecular Markers for Granulovacuolar Degeneration Are Present in Rimmed Vacuoles, PLOS ONE, 8(11), e80995, 20131128
- Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data, RADIATION AND ENVIRONMENTAL BIOPHYSICS, 51(2), 133-141, 201205
- The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
- Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease., Acta Neuropathologica, 121(4), 555-557, 20110401
- The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
- Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
- Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
- Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 1923.e9-1923.e10, 201110
- Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, 20111121
- 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
- ★, Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-226, 20100513
- LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
- 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
- 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
- A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population, NEUROSCIENCE LETTERS, 414(1), 71-74, 20070227
- Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease, NEUROLOGY, 67(4), 697-699, 20060822
- Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4, MOVEMENT DISORDERS, 21(9), 1355-1360, 200609
- 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
- 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
- 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
- A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan, NEUROSCIENCE LETTERS, 358(2), 107-110, 20040325
- Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6, ARCHIVES OF NEUROLOGY, 61(6), 933-937, 200406
- SCA8 repeat expansion: Large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6, AMERICAN JOURNAL OF HUMAN GENETICS, 72(3), 704-709, 200303
- Influence of monocyte chemoattractant protein 1 gene polymorphism on age at onset of sporadic Parkinson's disease, MOVEMENT DISORDERS, 18(8), 953-955, 200308
- Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease, NEUROSCIENCE LETTERS, 320(1-2), 105-107, 20020301
- Contribution of the interleukin-1 beta gene polymorphism in multiple system atrophy, MOVEMENT DISORDERS, 17(4), 808-811, 200207
- ★, 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
- Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels, JOURNAL OF THE NEUROLOGICAL SCIENCES, 182(2), 167-170, 20010101
- 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
- Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan, NEUROSCIENCE LETTERS, 300(2), 125-127, 20010309
- 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
- Influence of interleukin-1 beta gene polymorphism on age-at-onset of spinocerebellar ataxia 6 (SCA6) in Japanese patients, NEUROSCIENCE LETTERS, 307(2), 128-130, 20010713
- Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer's disease, NEUROLOGY, 57(2), 337-339, 20010724
- ★, Lack of an association of estrogen receptor alpha gene polymorphisms and transcriptional activity with Alzheimer disease, ARCHIVES OF NEUROLOGY, 57(2), 236-240, 200002
- Structure and regulation of the human NeuroD (BETA2/BHF1) gene, Molecular Brain Research, 69(2), 223-231, 19990601
- 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
- Characteristic magnetic resonance findings in Machado-Joseph Disease., Archives of Neurology., 55(1), 33-37, 19980401
- CAG repeat length and disease duration in Machado-Joseph disease: a new clinical classification., J. Neurol. Sci., 152(2), 166-171, 19970201
- Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)., Hum Mol Genet, 6(8), 1283-1287, 19970401
- 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
- Homozygosity for Machado-Joseph disease gene enhances phenotypic severity., J Neurol Neurosurg Psychiatry, 60(3), 354-356, 19960301
- Clonig and expression of a rat brain basic helix-loop-helix factor 1(BHF1)., Biochem. Biophys. Res. Comm., 221, 199-204, 19960401
- A family with Machado-Joseph disease, previously diagnosed as dentatorubral-pallidoluysian atrophy., Neurology, 46(4), 1154-1156, 19960401
- Molecular cloning and characterization of a cDNA encoding a novel basic helix-loop-helix protein structurally related to Neuro-D/BHF1., Biochem. Biophys. Res. Commun., 220(3), 754-758, 19960401
- 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
- ★, Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease., Hum Mol Genet, 4(5), 807-812, 19950401
- Unique features of the CAG repeats in Machado-Joseph disease., Nat Genet, 9(4), 344-345, 19950401
- Association between periodontal disease due to Campylobacter rectus and cerebral microbleeds in acute stroke patients, PLOS ONE, 15(10), e0239773, 20201008
- Serum IgG titers against periodontal pathogens are associated with cerebral hemorrhage growth and 3-month outcome, PLOS ONE, 15(10), e0237185, 20201028
- 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
Publications such as books
- 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
- 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
- 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
- Causative gene of amyotrophic lateral sclerosis: optineurin, Hirofumi Maruyama, 60th Annual Meeting of The American Society of Human Genetics, 2010, Without Invitation, English
Awards
- 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
- 2011/05/18, Award of Japanese Society of Neurology, Japanese Society of Neurology, Identification of new causative gene of amyotrophic lateral sclerosis; optineurin
- 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
- 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
- Chief of the Center, 2019/04, 2021/03, Center for Intractable Disease Control (Hiroshima)
History as Peer Reviews of Academic Papers
- 2020, Journal of Human Genetics, Others, reviewer, 1
- 2020, Hiroshima Journal of Medical Sciences, Editor, Associate Editors
- 2020, American Journal of Neurodegenerative Disease, Editor, Associate Editorial Board