Research keywords (3):
neurogenetics
, neurodegenerative diseases
, 包括脳ネットワーク
Research theme for competitive and other funds (22):
2022 - 2025 Analysis of pathological dynamics of membrane-less organelles in SALS
2022 - 2025 SCA42疾患修飾治療に向けた病態基盤の解明
2021 - 2024 扁桃体腫大を伴う側頭葉てんかんの病態背景の解明と新規治療法の開発
2021 - 2024 新規イントロンリピート病CANVASの病態解析モデルの構築
2021 - 2024 単球系細胞から捉えた全身炎症による神経変性疾患の病態進展の機序解明
2021 - 2024 Development of disease-modifying therapy for spinocerebellar ataxia type 42 and elucidation of pathophysiological basis using optogenetic methods
2018 - 2021 Analysis of UBQLN2 based on loss of function model
2018 - 2021 Development of novel therapeutic strategy against neurodegenerative diseases by modulation of monocyte-lineage cell
2018 - 2021 Development of ALS therapy targeting LOTUS, a functional molecule for neuronal regeneration
2018 - 2021 Elucidation of pathophysiology and development of treatment for spinocerebellar ataxia using a novel mouse model
2017 - 2019 Elucidation of abnormal accumulation of DDX17 in motor neuron of ALS
2017 - 2019 Clarification of the pathological mechanism of VGCC associated diseases
2016 - 2018 Neural substrates of masked-face in Parkinson disease: A quantitative analysis of facial expression.
2015 - 2018 Analysis of genetic back ground and pathomechanism of spinocerebellar degeneration
2015 - 2017 Analysis of polyglutamine aggregation protein in ALS/FTLD
2014 - 2016 Analysis of RNA binding proteins in polyglutamine disease
2013 - 2016 Integrated research of polyglutamine disease and ALS/FTLD by analysis of UBQLN2
2013 - 2016 Establishment of diagnosis method and analysis of genetic background of adult leukoencephalopathy patients with desktop next-generation sequencer
2010 - 2015 Exploration of disease-related genes based on personal genome analysis and elucidation of pathogenesis in ALS
2012 - 2014 Exome analysis of spinocerebellar ataxias
2010 - 2011 Isolation of causative genes for recessive spinocerebellar ataxia
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Papers (136):
Hiromi Fukuda, Takeshi Mizuguchi, Hiroshi Doi, Shinichi Kameyama, Misako Kunii, Hideto Joki, Tatsuya Takahashi, Hiroyasu Komiya, Mei Sasaki, Yosuke Miyaji, et al. Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias. Journal of human genetics. 2023. 68. 10. 689-697
Pauli Ylikotila, Jussi Sipilä, Tiina Alapirtti, Riitta Ahmasalo, Eriko Koshimizu, Satoko Miyatake, Anri Hurme-Niiranen, Ari Siitonen, Hiroshi Doi, Fumiaki Tanaka, et al. Association of biallelic RFC1 expansion with early-onset Parkinson's disease. European journal of neurology. 2023. 30. 5. 1256-1261
Yuichi Higashiyama, Miho Kuroki, Yosuke Kudo, Tomoya Hamada, Keisuke Morihara, Asami Saito, Yosuke Miyaji, Katsuo Kimura, Hideto Joki, Hitaru Kishida, et al. Reduced likelihood of the Poggendorff illusion in cerebellar strokes: a clinical and neuroimaging study. Brain communications. 2023. 5. 2. fcad053
Akihiro Ogasawara, Hideyuki Takeuchi, Hiroyasu Komiya, Yuki Ogawa, Koki Nishimura, Shun Kubota, Shunta Hashiguchi, Keita Takahashi, Misako Kunii, Kenichi Tanaka, et al. Anti-inflammatory effects of siponimod on astrocytes. Neuroscience research. 2022. 184. 38-46
2002 - 2006 Yokohama City University Graduate School of Medicine Department of Neurology
1992 - 1998 Niigata University School of Medicine
Work history (8):
2016/04 - 現在 School of Medicine, Yokohama City University Department of Neurology and Stroke Medicine Associate Professor
2012/04 - 2016/03 School of Medicine, Yokohama City University Department of Neurology and Stroke Medicine Lecturer
2010/01 - 2012/03 School of Medicine, Yokohama City University Department of Human Genetics Assistant Professor
2008/04 - 2009/12 School of Medicine, Yokohama City University Department of Clinical Neurology and Stroke Medicine Assistant Professor
2006/04 - 2008/03 National Hospital Organization Yokohama Medical Center Department of Neurology Head of Neurologist
2002/04 - 2005/11 RIKEN Laboratory for Structural Neuropathology Junior Research Associtate
2000/07 - 2002/03 Yokohama City University School of Medicine, Department of Neurology Assistant Professor
2000/04 - 2000/06 横浜市立大学附属病院 神経内科 常勤特別職
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Committee career (2):
2020/08 - 現在 日本脳卒中学会 代議員
2017/09 - 現在 日本神経学会 代議員
Awards (2):
2018/11 - 武田科学振興財団 医学系研究助成
2011 - YokohamaCity University Medical Association Encouragement Prize for Medical Research
Association Membership(s) (7):
Japanese Society of Neurological Therapeutics
, 日本神経感染症学会
, THE JANPANESE SOCIETY OF INTERNAL MEDICINE
, The Japan Society of Human Genetics
, JAPAN SOCIETY FOR DEMENTIA RESEARCH
, The Japan Stroke Society
, SOCIETAS NEUROLOGICA JAPONICA