KOH Kishin 高紀信

Researcher Number	00622557
Other IDs	https://orcid.org/0000-0001-8519-7874
Affiliation (Current)	2025: 山梨大学, 大学院総合研究部, 医学研究員
Affiliation (based on the past Project Information) *help	2021 – 2022: 山梨大学, 大学院総合研究部, 医学研究員 2018 – 2020: 山梨大学, 大学院総合研究部, 臨床助教 2018: 山梨大学, 大学院総合研究部, 助教 2017: 山梨大学, 大学院総合研究部, 診療助教
Review Section/Research Field	Principal Investigator Basic Section 51030:Pathophysiologic neuroscience-related / Medical genome science Except Principal Investigator Basic Section 52020:Neurology-related
Keywords	Principal Investigator 脊髄小脳変性症 / 遺伝性痙性対麻痺 / GRID2 / LYST / 脳神経疾患 / シャルコーマリートゥース病 / 脊髄小脳変性 Except Principal Investigator エンドソーム / VPS13D / REEP2 … More / ALDH18A1 / SPG80 / UBAP1 / 分子病態 / 遺伝子 / 遺伝性痙性対麻痺 Less

Identification of a novel causative gene for hereditary spastic paraplegia and elucidation of its mechanismsPrincipal Investigator
- Principal Investigator
  
  Koh Kishin
- Project Period (FY)
  2019 – 2022
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 51030:Pathophysiologic neuroscience-related
- Research Institution
  University of Yamanashi
Identification of causative genes for hereditary spastic paraplegia
- Principal Investigator
  
  Takiyama Yoshihisa
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  University of Yamanashi
Identification of novel gene of spinocerebellar ataxia for new target of therapy.Principal Investigator
- Principal Investigator
  
  KOH Kishin
- Project Period (FY)
  2017 – 2018
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Medical genome science
- Research Institution
  University of Yamanashi

All 2022 2021 2020 2019 2018 2017

All Journal Article Presentation

[Journal Article] A clinical and genetic study of SPG31 in Japan.2022
- Author(s)
  Hata T, Nan H, Koh K, Ishiura H, Tsuji S, and Takiyama Y
- Journal Title
  
  J Hum Genet
  
  Volume: online ahead of print Issue: 7 Pages: 421-425
- DOI
  10.1038/s10038-022-01021-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07456, KAKENHI-PROJECT-19K16910
[Journal Article] Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.2022
- Author(s)
  Ando Masahiro、Higuchi Yujiro、Yuan Junhui、Yoshimura Akiko、Taniguchi Takaki、Takei Jun、Takeuchi Mika、Hiramatsu Yu、Shimizu Fumitaka、Kubota Masaya、Takeshima Akari、et al.
- Journal Title
  
  Annals of Clinical and Translational Neurology
  
  Volume: 9 Issue: 7 Pages: 902-911
- DOI
  10.1002/acn3.51603
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07416, KAKENHI-PROJECT-22K15713, KAKENHI-PROJECT-21H02842, KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-21K15702
[Journal Article] Chediak-Higashi syndrome presenting as a hereditary spastic paraplegia.2022
- Author(s)
  Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y, JASPAC.
- Journal Title
  
  J Hum Genet
  
  Volume: 67 Issue: 2 Pages: 119-121
- DOI
  10.1038/s10038-021-00977-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07456, KAKENHI-PROJECT-19K16910
[Journal Article] A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia2022
- Author(s)
  Kishin Koh、Haruo Shimazaki、Matsuo Ogawa、Yoshihisa Takiyama
- Journal Title
  
  Human Genome Variation
  
  Volume: 9 Issue: 1
- DOI
  10.1038/s41439-022-00204-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22H04925, KAKENHI-PROJECT-19K16910
[Journal Article] SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report2021
- Author(s)
  Koh K, Tkaki R, Ishihara H, Tsuji S, Takiyama Y
- Journal Title
  
  BMC Neurol
  
  Volume: 21 Pages: 64-68
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07495
[Journal Article] Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia2021
- Author(s)
 Wiessner Manuela、Koh Kishin、Senderek Jan、Genomics England Research Consortium, PREPARE network
- Journal Title
 
 Brain
 
 Volume: 144 Issue: 8 Pages: e70-e70
- DOI
 10.1093/brain/awab193
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-19K16910
[Journal Article] A Nepalese family with an REEP2 mutation: clinical and genetic study2021
- Author(s)
  Nan Haitian、Takaki Ryusuke、Hata Takanori、Koh Kishin、Takiyama Yoshihisa
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 7 Pages: 1-4
- DOI
  10.1038/s10038-020-00882-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-21K07456
[Journal Article] Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia2021
- Author(s)
  Wiessner M, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Takiyama Y, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J.
- Journal Title
  
  Brain
  
  Volume: - Issue: 5 Pages: 1422-1434
- DOI
  10.1093/brain/awab041
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-21K07456
[Journal Article] SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report2021
- Author(s)
  Koh Kishin、Takaki Ryusuke、Ishiura Hiroyuki、Tsuji Shoji、Takiyama Yoshihisa
- Journal Title
  
  BMC Neurology
  
  Volume: 21 Issue: 1
- DOI
  10.1186/s12883-021-02087-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K16910
[Journal Article] Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation2021
- Author(s)
 Nakamura Takumi、Kawarabayashi Takeshi、Koh Kishin、Takiyama Yoshihisa、Ikeda Yoshio、Shoji Mikio
- Journal Title
 
 Intern. Med.
 
 Volume: 60 Issue: 1 Pages: 141-144
- DOI
 10.2169/internalmedicine.4617-20
- NAID
 130007965378
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2021-01-01
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-19K07989, KAKENHI-PROJECT-19K16910
[Journal Article] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia2020
- Author(s)
  Tsuchiya Mai、Nan Haitian、Koh Kishin、Ichinose Yuta、Gao Lihua、Shimozono Keisuke、Hata Takanori、Kim Yeon-Jeong、Ohtsuka Toshihisa、Cortese Andrea、Takiyama Yoshihisa
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 12 Pages: 1143-1147
- DOI
  10.1038/s10038-020-0807-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PUBLICLY-19H05014, KAKENHI-PROJECT-19H03324, KAKENHI-PROJECT-18K07495
[Journal Article] A novel mutation in the GBA2 gene in a Japanese patient with SPG46: a case report2020
- Author(s)
  Nakamura-Shindo K, Ono K, Koh K, Ishiura H, Tsuji S, Takiyama Y, Yamada M
- Journal Title
  
  eNeurologicalSci
  
  Volume: 19 Pages: 100238-100238
- DOI
  10.1016/j.ensci.2020.100238
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-19K16910
[Journal Article] VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia2020
- Author(s)
  Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y
- Journal Title
  
  Mol Genet Genomic Med
  
  Volume: 8 Issue: 3
- DOI
  10.1002/mgg3.1108
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-19K16910, KAKENHI-PUBLICLY-19H05014, KAKENHI-PROJECT-19H03324, KAKENHI-PROJECT-16H06279
[Journal Article] A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.2020
- Author(s)
  1.Haitian Nan, Kensho Okamoto, Lihua Gao, Yuto Morishima, Yuta Ichinose, Kishin Koh , Masaki Hashiyada , Noboru Adachi and Yoshihisa Takiyama.
- Journal Title
  
  Intern Med Advance Publication
  
  Volume: 59 Issue: 18 Pages: 2311-2315
- DOI
  10.2169/internalmedicine.4599-20
- NAID
  130007904754
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K10569, KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-17H00737, KAKENHI-PROJECT-18K07495
[Journal Article] Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia2020
- Author(s)
  Odake Yasuko、Koh Kishin、Takiyama Yoshihisa、Ishiura Hiroyuki、Tsuji Shoji、Yamada Masahito、Yoshita Mitsuhiro
- Journal Title
  
  Neurology Genetics
  
  Volume: 6 Issue: 5
- DOI
  10.1212/nxg.0000000000000514
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K16910
[Journal Article] PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia2019
- Author(s)
  Koh K, Ichinose Y, Ishiura H, Nan H, Mitsui J, Takahashi J, Sato W, Itoh Y, Hoshino K, Tsuji S, Takiyama Y, Japan Spastic Paraplegia Research Consortium
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Issue: 1 Pages: 55-59
- DOI
  10.1038/s10038-018-0519-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
[Journal Article] A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy2019
- Author(s)
  Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, Sato R, Togashi N, Takashima H, Ishiura H, Tsuji S, Koh K, Takiyama Y, Haginoya K
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Issue: 2 Pages: 171-176
- DOI
  10.1038/s10038-018-0538-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-18H02742, KAKENHI-PROJECT-17K17772
[Journal Article] A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment2019
- Author(s)
  Tsuchiya M, Koh K, Ishida A, Ichinose Y, Shindo K, Takiyama Y
- Journal Title
  
  J Neurol Sci
  
  Volume: 397 Pages: 114-116
- DOI
  10.1016/j.jns.2018.12.025
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772, KAKENHI-PROJECT-19K16910
[Journal Article] Non-convulsive status epilepticus associated with neuronal intranuclear inclusion disease: A case report and literature review.2019
- Author(s)
  Shindo K, Tsuchiya M, Hata T, Ichinose Y, Koh K, Sone J, Nagasaka T, Sobue G, Takiyama Y.
- Journal Title
  
  Epilepsy Behav Case Rep.
  
  Volume: 11 Pages: 103-106
- DOI
  10.1016/j.ebcr.2019.01.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K17772
[Journal Article] Decreasing 123I-ioflupane SPECT accumulation and 123I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene2019
- Author(s)
  Koh K, Tsuchiya M, Nagasaka T, Shindo K, Takiyama Y
- Journal Title
  
  Neurol Sci
  
  Volume: 40 Issue: 2 Pages: 429-431
- DOI
  10.1007/s10072-018-3603-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
[Journal Article] UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes2019
- Author(s)
  Nan H, Ichinose Y, Tanaka M, Koh K, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Issue: 11 Pages: 1055-1065
- DOI
  10.1038/s10038-019-0670-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-19K16910, KAKENHI-PUBLICLY-19H05014, KAKENHI-PROJECT-19H03324
[Journal Article] Conjugal cerebellar type of multiple system atrophy: Person-to-person transmission?2019
- Author(s)
  Nan Haitian、Natori Takahiro、Ichinose Yuta、Koh Kishin、Kobayashi Fumikazu、Shindo Kazumasa、Hashiyada Masaki、Adachi Noboru、Yamagata Zentaro、Takiyama Yoshihisa
- Journal Title
  
  Parkinsonism & Related Disorders
  
  Volume: 69 Pages: 68-70
- DOI
  10.1016/j.parkreldis.2019.10.026
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K16910, KAKENHI-PROJECT-17H03737, KAKENHI-PROJECT-17H00737
[Journal Article] Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG52019
- Author(s)
 Nan H, Shimozono K, Ichinose Y, Tsuchiya M, Koh K, Hiraide M, Takiyama Y
- Journal Title
 
 Intern. Med.
 
 Volume: 58 Issue: 5 Pages: 719-722
- DOI
 10.2169/internalmedicine.1839-18
- NAID
 130007606127
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2019-03-01
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772, KAKENHI-PROJECT-19K16910
[Journal Article] Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.2019
- Author(s)
  Nan H, Takaki R, Hata T, Ichinose Y, Tsuchiya M, Koh K, Takiyama Y.
- Journal Title
  
  J Peripher Nerv Syst.
  
  Volume: 24 Issue: 1 Pages: 156-160
- DOI
  10.1111/jns.12289
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K17772
[Journal Article] 遺伝性痙性対麻痺の新規治療ターゲット探求のための原因遺伝子探索2019
- Author(s)
  高　紀信、南　海天、一瀬佑太、石浦浩之、辻　省次、瀧山嘉久
- Journal Title
  
  Precision Medicine
  
  Volume: 2 Pages: 1247-1253
- Data Source
  KAKENHI-PROJECT-18K07495
[Journal Article] JASPAC: Japan Spastic Paraplegia Research Consortium2019
- Author(s)
  Koh K, Ishiura H, Tsuji S, Takiyama Y
- Journal Title
  
  Brain Sci
  
  Volume: 8 Issue: 8 Pages: 153-153
- DOI
  10.3390/brainsci8080153
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
[Journal Article] Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.2019
- Author(s)
  Ichinose Y, Ishiura H, Tanaka M, Yoshimura J, Doi K, Umeda T, Yamauchi H, Tsuchiya M, Koh K, Yamashiro N, Mitsui J, Goto J, Onishi H, Ohtsuka T, Shindo K, Morishita S, Tsuji S, Takiyama Y.
- Journal Title
  
  Parkinsonism Relat Disord.
  
  Volume: - Pages: 57-63
- DOI
  10.1016/j.parkreldis.2018.11.028
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K17772, KAKENHI-PUBLICLY-19H05014, KAKENHI-PROJECT-19H03324
[Journal Article] Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene2019
- Author(s)
 Nan H, Takaki R, Shimozono K, Ichinose Y, Koh K, Takiyama Y.
- Journal Title
 
 Intern. Med.
 
 Volume: 58 Issue: 16 Pages: 2397-2400
- DOI
 10.2169/internalmedicine.2761-19
- NAID
 130007690145
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2019-08-15
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-17K17772, KAKENHI-PROJECT-19K16910
[Journal Article] Novel SLC20A2 mutation in primary familial brain calcification with disturbance of sustained phonation and orofacial apraxia2018
- Author(s)
  Nan Haitian、Takaki Ryusuke、Ichinose Yuta、Tsuchiya Mai、Koh Kishin、Hanyu Shuji、Shindo Kazumasa、Takiyama Yoshihisa
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 390 Pages: 1-3
- DOI
  10.1016/j.jns.2018.03.031
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K17772
[Journal Article] Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis2018
- Author(s)
 Mukai M, Koh K, Ohnuki Y, Nagata E, Takiyama Y, Takizawa S
- Journal Title
 
 Intern. Med.
 
 Volume: 57 Issue: 21 Pages: 3183-3186
- DOI
 10.2169/internalmedicine.0976-18
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2018-11-01
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
[Journal Article] Sympathetic neurograms showing characteristics of both muscle and skin sympathetic nerve activity in a case with pure autonomic failure2018
- Author(s)
  Shindo Kazumasa、Satake Akane、Kurita Naofumi、Sato Toko、Tsuchiya Mai、Ichinose Yuta、Hata Takanori、Koh Kishin、Nagasaka Takamura、Takiyama Yoshihisa
- Journal Title
  
  Clinical Autonomic Research
  
  Volume: - Issue: 3 Pages: 347-349
- DOI
  10.1007/s10286-017-0497-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K17772
[Journal Article] Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment2018
- Author(s)
  Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y, Japan Spastic Paraplegia Research Consortium
- Journal Title
  
  J Hum Genet
  
  Volume: 63 Issue: 9 Pages: 1009-1013
- DOI
  10.1038/s10038-018-0477-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07495, KAKENHI-PROJECT-17K17772
[Journal Article] Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy2018
- Author(s)
  Ishiura Hiroyuki、Doi Koichiro、Mitsui Jun、Yoshimura Jun、Matsukawa Miho Kawabe、Takahashi Yuji、Date Hidetoshi、Matsukawa Takashi、Shimizu Jun、Koh Kishin、Takiyama Yoshihisa、Goto Jun、Morishita Shinichi、Tsuji Shoji
- Journal Title
  
  Nature Genetics
  
  Volume: 50 Issue: 4 Pages: 581-590
- DOI
  10.1038/s41588-018-0067-2
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17772, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-PROJECT-15H06161, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05874, KAKENHI-PROJECT-17H05085, KAKENHI-PROJECT-16K09670, KAKENHI-PROJECT-16K14571, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-17K07255, KAKENHI-PROJECT-17K09798, KAKENHI-PROJECT-17K10888, KAKENHI-PROJECT-18K07542, KAKENHI-PROJECT-16K09681
[Journal Article] Pre- and postganglionic vasomotor dysfunction causes distal limb coldness in multiple system atrophy2017
- Author(s)
  Shindo Kazumasa、Tsuchiya Mai、Ichinose Yuta、Koh Kishin、Hata Takanori、Yamashiro Nobuo、Kobayashi Fumikazu、Nagasaka Takamura、Takiyama Yoshihisa
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 380 Pages: 191-195
- DOI
  10.1016/j.jns.2017.07.018
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] ヘテロ接合性GRID2遺伝子変異による純粋小脳型優性遺伝性脊髄小脳失調症の一家系2022
- Author(s)
  高紀信，嶋崎晴雄，小川松夫，瀧山嘉久
- Organizer
  第63回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K16910
[Presentation] CANVASの臨床・分子遺伝学的検討2020
- Author(s)
  土屋　舞、一瀬佑太、髙　紀信、羽田貴礼、南　海天、高　麗華、長坂高村、新藤和雅、瀧山嘉久
- Organizer
  第61回日本神経学会総会学術集会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] A clinical and genetic study of SPG80, the new type of hereditary spastic paraplegia.2020
- Author(s)
  Ichinose Y, Nan H, Koh K, Tanaka M, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y.
- Organizer
  The 61th Annual Meeting of the Japanease Society of Neurology.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] A clinical and genetic study of SPG80, the new type of hereditary spastic paraplegia2020
- Author(s)
  Ichinose Y, Nan H, Koh K, Tanaka M, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y
- Organizer
  The 61th Annual Meeting of the Japanese Society of Neurology
- Data Source
  KAKENHI-PROJECT-19K16910
[Presentation] GBA遺伝子に新規ホモ接合性ナンセンス変異を認めた遺伝性痙性対麻痺46型の姉妹例.2020
- Author(s)
  三橋　泉、中馬越清隆、高紀信、瀧山嘉久、玉岡晃
- Organizer
  第234回日本神経学会関東・甲信越地方会
- Data Source
  KAKENHI-PROJECT-19K16910
[Presentation] Clinical and genetic study of SPG46 in Japan.2020
- Author(s)
  Koh k, Ishihara H, Nakamagoe K, Nakamura K, Ishinose Y, Yoshikawa H, Sunada Y, Tamaoka A, Yamada M, Tsuji S, Takiyama Y, JASPAC
- Organizer
  The 61th Annual Meeting of the Japanease Society of Neurology.
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] CYP7B1遺伝子に新規フレームシフト変異を認めたSPG5の66歳女性例2019
- Author(s)
  一瀬佑太、南　海天、下園啓介、土屋　舞、高　紀信、平井出正紀、長坂高村、瀧山嘉久
- Organizer
  第228回日本神経学科宇関東・甲信越地方会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 遺伝性痙性対麻痺の新規原因遺伝子候補の抽出2019
- Author(s)
  一瀬佑太、南　海天、高　紀信、田中真生、石浦浩之、三井　純、下邨華菜、森本昌史、濱田　駿、大塚稔久、辻　省次、瀧山嘉久
- Organizer
  第60回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 幼児期発症の純粋型痙性失調症 (SPG80) の49歳女性例2019
- Author(s)
  一瀬佑太、南　海天、高　麗華、新藤和雅、瀧山嘉久
- Organizer
  第231回日本神経学科宇関東・甲信越地方会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] CYP7B1遺伝子に新規フレームシフト変異を認めたSPG5の66歳女性例2019
- Author(s)
  一瀬佑太、南　海天、下園啓介、土屋　舞、高　紀信、平井出正紀、長坂高村、瀧山嘉久
- Organizer
  第228回日本神経学会関東・甲信越地方会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 遺伝性痙性対麻痺の新規原因遺伝子候補の抽出2019
- Author(s)
  一瀬佑太、南　海天、高　紀信、田中真生、石浦浩之、三井　純、下邸華菜、森本昌史、濱田　駿、大塚稔久、辻　省次、瀧山嘉久
- Organizer
  第60回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] VPS13D関連疾患の臨床・遺伝学的検討2019
- Author(s)
  高　紀信、石浦浩之、嶋崎晴雄、堤内路子、佐竹紅音、土屋　舞、南　海天、一瀬佑太、長坂高村、辻　省次、瀧山嘉久
- Organizer
  第60回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 精神遅滞、痙性対麻痺、脳梁菲薄化と白質病変を認めた40歳男性例2019
- Author(s)
  奥根　祥、石井一弘、高　紀信、瀧山嘉久、石浦浩之、田中真生、辻　省次、玉岡　晃
- Organizer
  第228回日本神経学会関東・甲信越地方会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 遺伝性痙性対麻痺の新規原因遺伝子候補の抽出2019
- Author(s)
  一瀬佑太、南　海天、高　紀信、田中真生、石浦浩之、三井　純、下邨華菜、森本昌史、濱田　駿、大塚稔久、辻　省次、瀧山嘉久
- Organizer
  第60回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K16910
[Presentation] VPS13D関連疾患の臨床・遺伝学的検討2019
- Author(s)
  高　紀信、石浦浩之、嶋崎晴雄、堤内路子、佐竹紅音、土屋　舞、南　海天、一瀬佑太、長坂高村、辻　省次、瀧山嘉久
- Organizer
  第60回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-19K16910
[Presentation] A new method to detect potential causative genes for spastic paraplegia utilizing aggregate data of whole exome sequencing.2018
- Author(s)
  Tanaka M, Koh K, Takiyama Y, Tsuji S
- Organizer
  The 70th Annual Meeting of the American Academy of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 遺伝性脊髄小脳変性症の原因遺伝子探索.2018
- Author(s)
  高　紀信、瀧山嘉久
- Organizer
  H.30年度先端ゲノム支援拡大班会議
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] PLA2G6遺伝子にホモ接合性p.R635Q変異を認めた遺伝性痙性対麻痺の一症例2018
- Author(s)
  長谷川樹、木村裕子、三野俊和、竹内潤、田村暁子、武田景俊、逢坂麻由子、高紀信、小坂理、安部貴人、瀧山嘉久、伊藤義彰
- Organizer
  第111回日本神経学会近畿地方会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] パーキンソン病診断におけるイオフルパンSPECTとMIBG心筋シンチグラフィーの有用性2018
- Author(s)
  村田博朗、土屋　舞、梅田貴子、高　紀信、羽田貴礼、長坂高村、新藤和雅、大西　洋、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] ATP13A2遺伝子のp.Ala885Asp (c.2654C>A) 変異を認めた遺伝性痙性対麻痺の1家系2018
- Author(s)
  小竹泰子、高　紀信、瀧山嘉久、石浦浩之、辻　省次、吉田光宏
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] A new method to detect potential causative genes for spastic paraplegia utilizing aggregate data of whole exome sequencing.2018
- Author(s)
  Tanaka M, Koh K, Takiyama Y, Tsuji S
- Organizer
  The 70th Annual Meeting of the American Academy of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] ATP13A2遺伝子のp.Ala885Asp (c.2654C>A) 変異を認めた遺伝性痙性対麻痺の1家系2018
- Author(s)
  小竹泰子、高　紀信、瀧山嘉久、石浦浩之、辻　省次、吉田光宏
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] VPS13D遺伝子変異による複合型遺伝性痙性対麻痺の44歳女性例2018
- Author(s)
  高　紀信、佐竹紅音、土屋舞、高木隆助、長坂高村、新藤和雅、瀧山嘉久
- Organizer
  第226回日本神経学会関東・甲信越地方会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] PLA2G6遺伝子変異は遺伝性痙性対麻痺を引き起こす2018
- Author(s)
  高　紀信、一瀬佑太、石浦浩之、三井　純、高橋純哉、佐藤和貴郎、伊藤義彰、星野恭子、JASPAC、辻　省次、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] 痙性対麻痺に認知機能低下と小脳性運動失調を合併したSPG4一家系の臨床・遺伝学的検討2018
- Author(s)
  土屋　舞、高　紀信、一瀬佑太、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] JASPAC: 遺伝性痙性対麻痺へのITB療法2018
- Author(s)
  一瀬佑太、高　紀信、石浦浩之、戸田達史、辻　省次、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] 痙性対麻痺に認知機能低下と小脳性運動失調を合併したSPG4一家系の臨床・遺伝学的検討2018
- Author(s)
  土屋　舞、高　紀信、一瀬佑太、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] Clinical and genetic analysis of three Japanese SPG3A families2018
- Author(s)
  Takegami N, Ishiura H, Iwata NK, Murai H, Yasaka K, Takuma H, Tamaoka A, Koh K, Takiyama Y, Tsuji S, Toda T, Goto J
- Organizer
  The 59th Annual Meeting of the Japanese Society of Neurology
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 家系内に末梢神経障害の混在を認めた遺伝性痙性対麻痺の36歳女性例2018
- Author(s)
  高木隆助、高　紀信、石浦浩之、羽生修二、土屋　舞、一瀬佑太、新藤和雅、辻　省次、瀧山嘉久
- Organizer
  第26回Nagano Neurology Conference
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] PLA2G6遺伝子変異は遺伝性痙性対麻痺を引き起こす2018
- Author(s)
  高　紀信、一瀬佑太、石浦浩之、三井　純、高橋純哉、佐藤和貴郎、伊藤義彰、星野恭子、JASPAC、辻　省次、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] PLA2G6遺伝子にホモ接合性p.R635Q変異を認めた遺伝性痙性対麻痺の一症例.2018
- Author(s)
  長谷川樹、木村裕子、三野俊和、竹内潤、田村暁子、武田景俊、逢坂麻由子、高紀信、小坂理、安部貴人、瀧山嘉久、伊藤義彰
- Organizer
  第111回日本神経学会近畿地方会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] 髄腔内バクロフェン療法を導入した孤発性痙性対麻痺の65歳女性例2018
- Author(s)
  佐竹紅音、村田博朗、栗田尚史、佐藤統子、名取高広、羽田貴礼、一瀬佑太、新藤和雅、瀧山嘉久
- Organizer
  第413回山梨神経の会
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] Co-aggregation of amyloid-beta and transthyretin in sporadic inclusion body myositis.2018
- Author(s)
  Nagasaka T, Hata T, Sato T, Satake A, Kurita T, Tsuchiya M, Koh K, Ichinose Y, Shindo K, Takiyama Y
- Organizer
  The 59th Annual Meeting of the Japanese Society of Neurology
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] A New Method to Detect Potential Causative Genes for Spastic Paraplegia Utilizing Aggregate Data of Whole Exome Sequencing2018
- Author(s)
  Masaki Tanaka, Hiroyuki Ishiura, Jun Mitsui, Kishin Koh, Yuta Ichinose, Yoshihisa Takiyama, Shoji Tsuji
- Organizer
  American Academy of Neurology Annual Meeting 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] Japan Spastic Paraplegia Research Consortium: 分かったこと、分からないこと2018
- Author(s)
  高　紀信、石浦浩之、一瀬佑太、田中真生、三井　純、JASPAC、辻　省次、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] Clinical and genetic analysis of three Japanese SPG3A families.2018
- Author(s)
  Takegami N, Ishiura H, Iwata NK, Murai H, Yasaka K, Takuma H, Tamaoka A, Koh K, Takiyama Y, Tsuji S, Toda T, and Goto J
- Organizer
  The 59th Annual Meeting of the Japanese Society of Neurology
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] 多系統萎縮症患者における皮膚交感神経活動と年齢、罹病期間との関連性の検討.2018
- Author(s)
  新藤和雅、佐藤統子、栗田尚史、佐竹紅音、土屋　舞、一瀬佑太、羽田貴礼、高　紀信、長坂高村、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] Japan Spastic Paraplegia Research Consortium: 分かったこと、分からないこと2018
- Author(s)
  高　紀信、石浦浩之、一瀬佑太、田中真生、三井　純、JASPAC、辻　省次、瀧山嘉久
- Organizer
  第59回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 遺伝性痙性対麻痺へのITB療法2018
- Author(s)
  一瀬佑太、高　紀信、石浦浩之、戸田達史、辻　省次、瀧山嘉久、JASPAC
- Organizer
  第59回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] 家系内に末梢神経障害の混在を認めた遺伝性痙性対麻痺の36歳女性例2018
- Author(s)
  高木隆助、高　紀信、石浦浩之、羽生修二、土屋　舞、一瀬佑太、新藤和雅、辻　省次、瀧山嘉久
- Organizer
  第26回Nagano Neurology Conference
- Data Source
  KAKENHI-PROJECT-18K07495
[Presentation] Clinical characteristics and detailed haplotype analysis of patients with SCA36 in Japan2017
- Author(s)
  K Koh, H Ishiura, Y Ichikawa, T Matsukawa, J Goto, J Mitsui, Y Takahashi, M Kawabe Matsukawa, K Doi, J Yoshimura, M Namekawa, S Morishita, T Ogawa, Y Sunada, H Kurisaki, K Hasegawa, S Tsuji, Y Takiyama
- Organizer
  XXIII World Congress of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] Genetic analysis of a large single family with patients with spastic paraplegia and those with neuropathy2017
- Author(s)
  Kishin Koh, Ryusuke Takaki, Mai Tsuchiya, Yuta Ichinose, Hiroyuki Ishiura, Shuji Hanyu, Shoji Tsuji, Yoshihisa Takiyama
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-17K17772
[Presentation] Dopamine transporter imaging and glucocerebrosidase activity in parkinson’s disease patients with a heterozygous gross deletion mutation in gba in a japanese family2017
- Author(s)
  Y Ichinose, H Ishiura, M Tanaka, T Umeda, H Yamauchi, M Tsuchiya, K Koh, N Yamashiro, T Nagasaka, Y Omiya, J Mitsui, J Goto, T Ohtsuka, H Onishi, S Kazumasa, S Tsuji, Y Takiyama
- Organizer
  XXIII World Congress of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17772

1. Takiyama Yoshihisa (00245052)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
2. 一瀬佑太 (90644782)

# of Collaborated Projects: 1 results

# of Collaborated Products: 14 results
3. SHIMIZU Fumitaka

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
4. 滝山嘉久

# of Collaborated Projects: 0 results

# of Collaborated Products: 33 results
5. 大塚稔久

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
6. 土屋舞

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
7. 橋谷田真樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

KOH Kishin 高 紀信

Research Projects

Research Products

Co-Researchers

Identification of a novel causative gene for hereditary spastic paraplegia and elucidation of its mechanismsPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Identification of causative genes for hereditary spastic paraplegia

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Identification of novel gene of spinocerebellar ataxia for new target of therapy.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] A clinical and genetic study of SPG31 in Japan.2022

Author(s)

Journal Title

DOI

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[Journal Article] Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Chediak-Higashi syndrome presenting as a hereditary spastic paraplegia.2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia2022

Author(s)

Journal Title

DOI

Data Source

[Journal Article] SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report2021

Author(s)

Journal Title

Data Source

[Journal Article] Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] A Nepalese family with an REEP2 mutation: clinical and genetic study2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report2021

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Spastic Paraplegia with Paget&apos;s Disease of Bone due to a <i>VCP</i> Gene Mutation2021

Author(s)

Journal Title

DOI

NAID

ISSN

Year and Date

Language

Data Source

[Journal Article] RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia2020

Author(s)

Journal Title

DOI

Data Source

KOH Kishin 高紀信

[Journal Article] Spastic Paraplegia with Paget's Disease of Bone due to a <i>VCP</i> Gene Mutation2021