Abe Akiko 阿部暁子

… Alternative Names

ABE Akiko 阿部暁子

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Researcher Number	10536949
Affiliation (Current)	2025: 山形大学, 医学部, 非常勤講師
Affiliation (based on the past Project Information) *help	2015: 山形大学, 医学部, 非常勤講師 2014: 山形大学, 医学部, 医員 2013: 山形大学, 医学部, 非常勤講師 2010 – 2011: 山形大学, 医学部, 非常勤講師
Review Section/Research Field	Principal Investigator Pediatrics Except Principal Investigator Pediatrics
Keywords	Principal Investigator MLPA法 / 遺伝性ニューロパチー / Charcot-Marie-Tooth病 / Charcot-Maric-Tooth病 / DHPLC法 Except Principal Investigator エクソーム解析 / 次世代シークエンサー / 呼吸鎖複合体 / 連鎖解析 / 軸索 … More / respiratory complex IV / cytochrome c oxidase / COX6A1 / チトクロームオキシダーゼ / 混合型 / 軸索型 / Charcot-Marie-Tooth病 / 遺伝性ニューロパチー Less

Pathogenesis of Charcot-Marie-Tooth disease
- Principal Investigator
  
  HAYASAKA Kiyoshi
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Molecular diagnosis of Charcot-Marie-Tooth disease in Japan: quantitative alterations in the major causative genesPrincipal Investigator
- Principal Investigator
  
  ABE Akiko
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University
Molecular diagnosis of Charcot-Marie-Tooth disease in JapanPrincipal Investigator
- Principal Investigator
  
  ABE Akiko
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Yamagata University

All 2015 2014 2013 2011 2010

All Journal Article Presentation Book

[Book] シャルコー・マリー・トゥース病診療マニュアル　改定２版2015
- Author(s)
  阿部暁子，早坂清,大竹弘哲,岡本裕嗣,小野寺理，小林庸子,滋賀健介,高嶋博,辻有希子,中川正法,能登祐一,橋口昭大,蜂須賀明子,蜂須賀研二,服部直樹,松嶋康之,宮口琢磨,山下敏彦,山田隆司,和田郁雄,渡邉耕太
- Total Pages
  181
- Publisher
  金芳堂
- Data Source
  KAKENHI-PROJECT-25860842
[Journal Article] Charcot-Marie-Tooth病type 4B1とmyelin outfoldings．2014
- Author(s)
  村上龍文，久徳弓子，西村広健，林真貴子，阿部暁子，早坂清，砂田芳秀
- Journal Title
  
  末梢神経
  
  Volume: 25 Pages: 52-58
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860842
[Journal Article] A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.2014
- Author(s)
  Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 95 Issue: 3 Pages: 294-300
- DOI
  10.1016/j.ajhg.2014.07.013
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24590400, KAKENHI-PROJECT-24592441, KAKENHI-PUBLICLY-25129701, KAKENHI-PROJECT-25293041, KAKENHI-PROJECT-25460403, KAKENHI-PROJECT-25461537, KAKENHI-PROJECT-25670087, KAKENHI-PROJECT-25860842, KAKENHI-PROJECT-25870074, KAKENHI-PROJECT-26870067
[Journal Article] The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.2013
- Author(s)
  Arai H, Hayashi M, Hayasaka K, Kanda T, Tanabe Y.
- Journal Title
  
  Neuromuscul Disord.
  
  Volume: 23 Issue: 8 Pages: 652-655
- DOI
  10.1016/j.nmd.2013.04.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461537
[Journal Article] Mild phenotype of Charcot-Marie-Tooth disease type 4B12013
- Author(s)
  Tatsufumi Murakami, Yumiko Kutoku, Hirotake Nishimura, Makiko Hayashi, Akiko Abe, Kiyoshi Hayasaka, Yoshihide Sunada
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 334 Issue: 1-2 Pages: 176-179
- DOI
  10.1016/j.jns.2013.08.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591260, KAKENHI-PROJECT-25860842
[Journal Article] Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.2013
- Author(s)
  Hayashi M, Abe A, Murakami T, Yamao S, Arai H, Hattori H, Iai M, Watanabe K, Oka N, Chida K, Kishikawa Y, Hayasaka K.
- Journal Title
  
  J Hum Genet.
  
  Volume: 58 Issue: 5 Pages: 273-278
- DOI
  10.1038/jhg.2013.15
- NAID
  10031177222
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25461537, KAKENHI-PROJECT-25860842
[Journal Article] INF2 mutationsin Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.2013
- Author(s)
  Toyota K, Ogino D, Hayashi M, Taki M, Saito K, Abe A, Hashimoto T, Umetsu K, Tsukaguchi H, Hayasaka K.
- Journal Title
  
  J Peripher Nerv Syst.
  
  Volume: 18(1) Issue: 1 Pages: 97-98
- DOI
  10.1111/jns5.12014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22406027, KAKENHI-PROJECT-24659504, KAKENHI-PROJECT-25461537, KAKENHI-PROJECT-25860842
[Journal Article] Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan2011
- Author(s)
  Abe A, Hayasaka K, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Issue: 5 Pages: 364-368
- DOI
  10.1038/jhg.2011.20
- NAID
  10030659221
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591243, KAKENHI-PROJECT-21591311, KAKENHI-PROJECT-22790964
[Journal Article] Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.2010
- Author(s)
  Abe A, Hayasaka K, 他7人
- Journal Title
  
  J Hum Genet
  
  Volume: 55 Issue: 11 Pages: 771-773
- DOI
  10.1038/jhg.2010.106
- NAID
  10030737757
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591243, KAKENHI-PROJECT-21591311, KAKENHI-PROJECT-22790964
[Journal Article] Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.2010
- Author(s)
  Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K
- Journal Title
  
  J Hum Genet.
  
  Volume: 55 Pages: 771-773
- NAID
  10030737757
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790964
[Journal Article] Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.2010
- Author(s)
  Hamaguchi A, Ishida C, Iwasa K, Abe A, Yamada M
- Journal Title
  
  J Neurol.
  
  Volume: 257 Pages: 1202-1204
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790964
[Journal Article] Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation2010
- Author(s)
  Hamaguchi A, Ishida C, Iwasa K, Abe A, Yamada M
- Journal Title
  
  J Neurol
  
  Volume: 257 Issue: 7 Pages: 1202-4
- DOI
  10.1007/s00415-010-5491-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22790964
[Journal Article] Phenotypic variability in a family with Townes-Brocks syndrome2010
- Author(s)
  Sudo Y, Hayasaka K, 他4名
- Journal Title
  
  J Hum Genet
  
  Volume: 55 Issue: 8 Pages: 550-551
- DOI
  10.1038/jhg.2010.64
- NAID
  10030736454
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591243, KAKENHI-PROJECT-22790964
[Presentation] 劣性軸索型および混合型Charcot-Marie-Tooth病における新規病因遺伝子COX6A1の同定2015
- Author(s)
  早坂清，田宮元，牧野悟士，沼倉周彦，林真貴子，阿部暁子，植木優夫，田中敦，他田正義，小野寺理
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場（大阪府大阪市）
- Year and Date
  2015-11-14
- Data Source
  KAKENHI-PROJECT-25860842
[Presentation] 劣性軸索型および混合型Charcot-Marie-Tooth病における新規病因遺伝子COX6A1の同定2015
- Author(s)
  早坂清，田宮元，牧野悟士，沼倉周彦，林真貴子，阿部暁子，植木優夫，田中敦，他田正義，小野寺理
- Organizer
  第57回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場（大阪府大阪市）
- Year and Date
  2015-11-14
- Data Source
  KAKENHI-PROJECT-25461537
[Presentation] 日本人におけるCharcot-Marie-Tooth病1A型重複について2011
- Author(s)
  阿部暁子
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京グランドプリンスホテル新高輪国際館パミール(東京都)
- Year and Date
  2011-08-13
- Data Source
  KAKENHI-PROJECT-22790964
[Presentation] Distal Hereditary Motor Neuiropathy VIの兄弟例2011
- Author(s)
  中島正幸, 山下裕史郎, 永光信一郎, 大矢崇志, 原宗嗣, 渋谷郁彦, 松石豊次郎, 阿部暁子, 早坂清
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  横浜市,パシフィコ横浜
- Year and Date
  2011-05-27
- Data Source
  KAKENHI-PROJECT-22790964
[Presentation] 日本人におけるCharcot-Marie-Tooth病1A型重複について2011
- Author(s)
  阿部暁子, 林真貴子, 沼倉周彦, 木島一己, 橋本多恵子, 白幡惠美, 池上徹, 早坂清
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京都港区,グランドプリンスホテル新高輪国際館パミール
- Year and Date
  2011-08-13
- Data Source
  KAKENHI-PROJECT-22790964
[Presentation] Charcot-Maire-Tooth disease with pyramidal featuresの1家系2011
- Author(s)
  友納優子, 藤田貴子, 児玉梨恵, 二之宮信也, 井原由紀子, 中村紀子, 井手口博, 井上貴仁, 阿部暁子, 早坂清, 安元佐和, 廣瀬伸一
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  横浜市,パシフィコ横浜
- Year and Date
  2011-05-27
- Data Source
  KAKENHI-PROJECT-22790964
[Presentation] 日本人Charcot-Maire-Tooth病の遺伝子診断と臨床像について2010
- Author(s)
  阿部暁子, 木島一己, 白幡惠美, 早坂清
- Organizer
  第52回日本小児神経学会総
- Place of Presentation
  福岡市,福岡国際会議場
- Year and Date
  2010-05-22
- Data Source
  KAKENHI-PROJECT-22790964
[Presentation] PMP22遺伝子欠失の複合へテロ接合体による遺伝性ニューローパチーの2家系2010
- Author(s)
  阿部暁子, 中村和幸, 加藤光広, 沼倉周彦, 本間友美, 白幡惠美, 清和ちづる, 伊東愛子, 早坂清
- Organizer
  第113回日本小児科学会学術集会
- Place of Presentation
  盛岡市,盛岡市民文化ホール
- Year and Date
  2010-04-23
- Data Source
  KAKENHI-PROJECT-22790964

1. HAYASAKA Kiyoshi (20142961)

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
2. NUMAKURA Chikahiko (00400549)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
3. TAKAHASHI Nobuya (20536958)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. MAKINO Satoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
5. 村上龍文

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
6. 砂田芳秀

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
7. 塚口裕康

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. 遠山育夫

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Abe Akiko 阿部 暁子

ABE Akiko 阿部 暁子

Research Projects

Research Products

Co-Researchers

Pathogenesis of Charcot-Marie-Tooth disease

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Molecular diagnosis of Charcot-Marie-Tooth disease in Japan: quantitative alterations in the major causative genesPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Molecular diagnosis of Charcot-Marie-Tooth disease in JapanPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Book] シャルコー・マリー・トゥース病診療マニュアル 改定２版2015

Author(s)

Total Pages

Publisher

Data Source

[Journal Article] Charcot-Marie-Tooth病type 4B1とmyelin outfoldings．2014

Author(s)

Journal Title

Data Source

[Journal Article] A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.2013

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Mild phenotype of Charcot-Marie-Tooth disease type 4B12013

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.2013

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] INF2 mutationsin Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.2013

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan2011

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.2010

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.2010

Author(s)

Journal Title

NAID

Data Source

[Journal Article] Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.2010

Author(s)

Journal Title

Data Source

[Journal Article] Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation2010

Abe Akiko 阿部暁子

ABE Akiko 阿部暁子

[Book] シャルコー・マリー・トゥース病診療マニュアル　改定２版2015