NAKAYAMA Junko 中山純子

Researcher Number	30433155
Other IDs
Affiliation (Current)	2023: 茨城県立医療大学, 付属病院, 准教授
Affiliation (based on the past Project Information) *help	2021: 茨城県立医療大学, 付属病院, 准教授 2012 – 2020: 茨城県立医療大学, 公私立大学の部局等, 准教授 2011 – 2012: 茨城県立医療大学, 付属病院, 准教授 2010: Ibaraki Prefectural University of Health Science, 講師 2009: Ibaraki Prefectural University of Health Science, 付属病院, 講師 2007 – 2008: Ibaraki Prefectural University of Health Science, 付属病院, 助教
Review Section/Research Field	Principal Investigator Pediatrics
Keywords	Principal Investigator 熱性けいれん / 遺伝子 / 遺伝子多型 / 遺伝子座 / 関連解析 / DNAチップ / けいれん性疾患 / オリゴヌクレオチドアレイ / CNV / ォリゴヌクレオチドアレイ … More / 日本人 / 遺伝子変異 / シークエンス / MLPA / MLPA法 / ダイレクトシークエンス法 / エクソーム解析 Less

エクソーム解析による熱性けいれん疾患感受性遺伝子の同定Principal Investigator
- Principal Investigator
  
  中山純子
- Project Period (FY)
  2017 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Ibaraki Prefectural University of Health Science
Searching for the febrile seizure susceptibility genes in a Japanese populationPrincipal Investigator
- Principal Investigator
  
  Nakayama Junko
- Project Period (FY)
  2013 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Ibaraki Prefectural University of Health Science
High resolution chromosomal microarray in febrile seizures.Principal Investigator
- Principal Investigator
  
  NAKAYAMA Junko
- Project Period (FY)
  2009 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Ibaraki Prefectural University of Health Science
Searching for the febrile seizure susceptibility genesPrincipal Investigator
- Principal Investigator
  
  NAKAYAMA Junko
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Ibaraki Prefectural University of Health Science

All 2020 2018 2016 2015 2013 2012 2011 2010 2009 2008 2007 Other

All Journal Article Presentation

[Journal Article] Effect of botulinum toxin type A treatment in children with cerebral palsy: Sequential2018
- Author(s)
  Matsuda M, Tomita K, Yozu A, Nakayama T, Nakayama J, Ohguro H, Iwasaki N.
- Journal Title
  
  Brain Dev
  
  Volume: 40 Pages: 452-457
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10079
[Journal Article] Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly2016
- Author(s)
  Nakayama J, Kinugasa H, Ohto T, Tanaka R, Nakayama T, Noguchi E, Arinami T, Iwasaki N
- Journal Title
  
  Neurology
  
  Volume: 86 Pages: 1456-1458
- DOI
  10.1212/wnl.0000000000002567
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25461557
[Journal Article] 重症心身障害児（者）におけるフードを用いたエネルギー代謝量の測定2015
- Author(s)
  岩崎信明, 中山純子, 稲田恵美, 絹笠英世, 中山智博, 伊藤達夫
- Journal Title
  
  脳と発達
  
  Volume: 47 Pages: 53-54
- NAID
  130005005753
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461557
[Journal Article] A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female2013
- Author(s)
  Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T.
- Journal Title
  
  J Neuros Sci
  
  Volume: 330(1-2) Pages: 123-126
- DOI
  10.1016/j.jns.2013.04.017
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-25461557
[Journal Article] Abnormal brin MRI signal in 18q-syndrome not due to dysmyelination2012
- Author(s)
  Tanaka R, Iwasaki N, Hayashi M, Nakayama J, Ohto T, Takahashi M, Numano T, Homma K, Hamano K, Sumazaki R
- Journal Title
  
  Brain Dev
  
  Volume: 34 Pages: 234-237
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591331
[Journal Article] Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia2012
- Author(s)
  Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, Shen Y, Pothos EN, Hess EJ, Fu YH, Edwards RH, Ptacek LJ
- Journal Title
  
  J Clin Invest
  
  Volume: 122 Pages: 507-518
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591331
[Journal Article] Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation2011
- Author(s)
  Nakayama J, Iwasaki N, Shin K, Sato H, Kamo M, Ohyama M, Noguchi E, Arinami T. A
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 250-252
- NAID
  10030658580
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591331
[Journal Article] 熱性けいれんと遺伝子異常2011
- Author(s)
  中山純子、岩崎信明
- Journal Title
  
  小児科診療
  
  Volume: 74 Pages: 879-883
- Data Source
  KAKENHI-PROJECT-21591331
[Journal Article] A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation2011
- Author(s)
  Nakayama J, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 250-252
- NAID
  10030658580
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591331
[Journal Article] Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and apathological insight into pilosebaceous anomaly2011
- Author(s)
  Kamo M, Ohyama M, Kosaki K, Amagai M, Ebihara T, Nakayama J, Ishiko A
- Journal Title
  
  Am J Dermatopathol
  
  Volume: 33 Pages: 403-406
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591331
[Journal Article] Progress in searching for the febrile seizure susceptibility genes.2009
- Author(s)
  Nakayama J
- Journal Title
  
  Brain & Development [Epub ahead of print]
- NAID
  10025579752
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591212
[Journal Article] Progress in searching for the febrile seizure susceptibility genes2009
- Author(s)
  Nakayama J
- Journal Title
  
  Brain & Dev
  
  Volume: 31 Pages: 359-365
- NAID
  10025579752
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591331
[Journal Article] Progress in searching for the febrile seizure susceptibility genes2009
- Author(s)
  Nakayama J.
- Journal Title
  
  Brain & Development 31
  
  Pages: 359-365
- NAID
  10025579752
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591212
[Journal Article] Progress in searching for the febrile seizure susceptibility genes.2009
- Author(s)
  Nakayama J
- Journal Title
  
  Brain & Development 31
  
  Pages: 359-365
- NAID
  10025579752
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591331
[Journal Article] 日本人における熱性けいれん疾患感受性遺伝子の同定2008
- Author(s)
  中山純子
- Journal Title
  
  てんかん治療研究振興財団研究年報 19
  
  Pages: 25-30
- Data Source
  KAKENHI-PROJECT-19591212
[Journal Article] FAME 3 : a novel form of progressive myoclonus and epilepsy2007
- Author(s)
  Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptacek L.
- Journal Title
  
  Neurology 68
  
  Pages: 1382-1389
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19591212
[Presentation] Whole-exome sequencing of a large Japanese family with febrile seizures2020
- Author(s)
  Junko Nakayama
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-17K10079
[Presentation] 当院における染色体異常をもつ小児に対する入院リハビリテーション2018
- Author(s)
  中山純子、中山智博、大黒春夏、渡慶次香代、岩崎信明
- Organizer
  日本リハビリテーション医学会秋季学術集会
- Data Source
  KAKENHI-PROJECT-17K10079
[Presentation] Mutation analysis of the myocyte enhancer favtor 2C gene (MEF2C) in Japanese patients with febrile seizures2016
- Author(s)
  Nakayama J et al.
- Organizer
  The 13 th International Congress of Human Genetics
- Place of Presentation
  Kyoto, Japan
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461557
[Presentation] Mutation analysis of the myocyte enhancer factor 2C gene (MEF2C) in Japanese patients with febrile seizures.2016
- Author(s)
  Junko Nakayama, Nobuaki Iwasaki, Kenzo Hamano, Tadao Arinami, Emiko Noguchi
- Organizer
  第13回　国際人類遺伝学会
- Place of Presentation
  国立京都国際会館
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25461557
[Presentation] Seizures in IFAP syndrome : a case report and review of the literature2012
- Author(s)
  中山純子
- Organizer
  第14回乳幼児けいれん研究会
- Place of Presentation
  東京大学
- Year and Date
  2012-02-18
- Data Source
  KAKENHI-PROJECT-21591331
[Presentation] Seizures in IFAP syndrome: a case report and review of the literature2012
- Author(s)
  中山純子
- Organizer
  第14回乳幼児けいれん研究会
- Place of Presentation
  東京
- Year and Date
  2012-02-18
- Data Source
  KAKENHI-PROJECT-21591331
[Presentation] 小児けいれん性疾患の遺伝学的背景-熱性けいれんを中心に-2010
- Author(s)
  中山純子
- Organizer
  日本小児科学会茨城地方会
- Place of Presentation
  つくば国際会議場(茨城県)
- Year and Date
  2010-02-21
- Data Source
  KAKENHI-PROJECT-21591331
[Presentation] 小児けいれん性疾患の遺伝学的背景-熱性けいれんを中心に-2010
- Author(s)
  中山純子
- Organizer
  日本小児科学会茨城地方会
- Place of Presentation
  つくば(茨城)
- Year and Date
  2010-02-21
- Data Source
  KAKENHI-PROJECT-21591331
[Presentation] Searching for the febrile seizure susceptibility genes in Japanese2008
- Author(s)
  中山純子
- Organizer
  International Symposium on Febrile Seizures and Related Conditions
- Place of Presentation
  大津
- Data Source
  KAKENHI-PROJECT-19591212
[Presentation] 日本人における熱性けいれん疾患感受性遺伝子の同定2008
- Author(s)
  中山純子
- Organizer
  第19回てんかん治療研究振興財団研究報告会
- Place of Presentation
  大阪
- Year and Date
  2008-03-07
- Data Source
  KAKENHI-PROJECT-19591212
[Presentation] Searching for the febrile seizure susceptibility genes Japanese2008
- Author(s)
  中山純子
- Organizer
  International Symposium on Febrile Seizures and Related Conditions
- Place of Presentation
  大津
- Data Source
  KAKENHI-PROJECT-19591212
[Presentation] 日本人における熱性けいれん発症と候補遺伝子多型との関連2007
- Author(s)
  中山純子、岩崎信明、浜野建三、中原智子、太田正康、堀米ゆみ、新健治、佐藤秀郎、松井陽、有波忠雄
- Organizer
  第49回日本小児神経学会
- Place of Presentation
  大阪
- Year and Date
  2007-07-05
- Data Source
  KAKENHI-PROJECT-19591212
[Presentation] Pelizaeus-Merzbacher-like disease患者に認められたGJC2ホモ変異は母親性ダイソミーによるLOHによって生じた
- Author(s)
  下島圭子、田中竜太、島田姿野、三宮範子、中山純子、岩崎信明
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-25461557
[Presentation] 神経線維腫症１型において頭部MRIで認められるUBOの病理学的所見
- Author(s)
  岩崎信明，林雅晴, 田中竜太, 大戸達之, 中山智博, 中山純子
- Organizer
  第56回日本小児神経学会学術集会
- Place of Presentation
  浜松
- Year and Date
  2014-05-29 – 2014-05-31
- Data Source
  KAKENHI-PROJECT-25461557

1. IWASAKI Nobuaki (70251006)

# of Collaborated Projects: 4 results

# of Collaborated Products: 12 results
2. ARINAMI Tadao (10212648)

# of Collaborated Projects: 4 results

# of Collaborated Products: 4 results
3. 野口恵美子 (40344882)

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
4. SHIMOJIMA Keiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

NAKAYAMA Junko 中山 純子

Research Projects

Research Products

Co-Researchers

エクソーム解析による熱性けいれん疾患感受性遺伝子の同定Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Searching for the febrile seizure susceptibility genes in a Japanese populationPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

High resolution chromosomal microarray in febrile seizures.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Searching for the febrile seizure susceptibility genesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Effect of botulinum toxin type A treatment in children with cerebral palsy: Sequential2018

Author(s)

Journal Title

Data Source

[Journal Article] Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly2016

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 重症心身障害児（者）におけるフードを用いたエネルギー代謝量の測定2015

Author(s)

Journal Title

NAID

Data Source

[Journal Article] A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female2013

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Abnormal brin MRI signal in 18q-syndrome not due to dysmyelination2012

Author(s)

Journal Title

Data Source

[Journal Article] Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia2012

Author(s)

Journal Title

Data Source

[Journal Article] Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation2011

Author(s)

Journal Title

NAID

Data Source

[Journal Article] 熱性けいれんと遺伝子異常2011

Author(s)

Journal Title

Data Source

[Journal Article] A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation2011

Author(s)

Journal Title

NAID

Data Source

[Journal Article] Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and apathological insight into pilosebaceous anomaly2011

Author(s)

Journal Title

Data Source

[Journal Article] Progress in searching for the febrile seizure susceptibility genes.2009

Author(s)

Journal Title

NAID

Data Source

[Journal Article] Progress in searching for the febrile seizure susceptibility genes2009

Author(s)

NAKAYAMA Junko 中山純子