kato tamaki 加藤環

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Tamaki Kato 加藤環

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Researcher Number	60841492
Other IDs
Affiliation (Current)	2026: 東京女子医科大学, 医学部, 非常勤講師
Affiliation (based on the past Project Information) *help	2020 – 2024: 東京女子医科大学, 医学部, 講師
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 52020:Neurology-related
Keywords	Principal Investigator SMN1 / 遺伝子型と表現型 / 新生児スクリーニング / 脊髄性筋萎縮症 / SMN2 / hybrid gene / long range PCR / 表現型 / 遺伝学的診断 / イントロン領域 … More / long range PCR法 / 次世代シークエンサー / 点変異 / SMN蛋白 / SMN2遺伝子 / hybrid遺伝子 / SNV / SMN１遺伝子 Less

脊髄性筋萎縮症の新生児スクリーニングにおける遺伝子型と重症度予測についての研究Principal Investigator
- Principal Investigator
  
  加藤環
- Project Period (FY)
  2024 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tokyo Women's Medical University
Genotype-phenotype correlations in spinal muscular atrophyPrincipal Investigator
- Principal Investigator
  
  Tamaki Kato
- Project Period (FY)
  2020 – 2024
- Research Category
  
  Grant-in-Aid for Early-Career Scientists
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Tokyo Women's Medical University

All 2025 2024 2022 2021

All Journal Article Presentation

[Journal Article] Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development2025
- Author(s)
  Otsuki, N., Kato, T., Yokomura, M. et al.
- Journal Title
  
  Orphanet Journal of Rare Diseases
  
  Volume: 20 Issue: 1 Pages: 91-91
- DOI
  10.1186/s13023-025-03597-4
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16610, KAKENHI-PROJECT-24K10961
[Journal Article] Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study2025
- Author(s)
  Kato, T., Yokomura, M., Osawa, Y. et al.
- Journal Title
  
  Orphanet Journal of Rare Diseases
  
  Volume: 20 Issue: 1 Pages: 55-55
- DOI
  10.1186/s13023-025-03568-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16610, KAKENHI-PROJECT-24K10961
[Journal Article] 新生児マススクリーニング先天性代謝異常等で異常値が出た時の対応2025
- Author(s)
  加藤環
- Journal Title
  
  周産期医学
  
  Volume: 55 Pages: 113116-113116
- Data Source
  KAKENHI-PROJECT-24K10961
[Journal Article] 今後導入が予定・期待される新生児スクリーニング2021
- Author(s)
  齋藤　加代子　加藤　環　松尾　真理
- Journal Title
  
  周産期医学
  
  Volume: 51 Pages: 260263-260263
- Data Source
  KAKENHI-PROJECT-20K16610
[Presentation] 新生児スクリーニングの普及に対応した脊髄性筋萎縮症の新患者登録システムの始動2024
- Author(s)
  加藤環
- Organizer
  第66回小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-20K16610
[Presentation] 新生児スクリーニングの普及に対応した脊髄性筋萎縮症の新患者登録システムの始動2024
- Author(s)
  加藤環
- Organizer
  第66回小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-24K10961
[Presentation] Genomic analysis study of the SMN1 gene region in patients with clinically diagnosed SMA2022
- Author(s)
  Tamaki Kato
- Organizer
  The 67th Annual Meeting of the Japan Society of Human Genetics (JSHG) 2022
- Data Source
  KAKENHI-PROJECT-20K16610
[Presentation] SMN遺伝子領域のゲノム解析によるSMA患者の遺伝子型と表現型の研究2021
- Author(s)
  加藤環
- Organizer
  第66回人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20K16610

1. 横村守 (60993863)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
2. 齋藤加代子 (90138834)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results

kato tamaki 加藤 環

Tamaki Kato 加藤 環

Research Projects

Research Products

Co-Researchers

脊髄性筋萎縮症の新生児スクリーニングにおける遺伝子型と重症度予測についての研究Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Genotype-phenotype correlations in spinal muscular atrophyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

[Journal Article] Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study2025

Author(s)

Journal Title

DOI

Data Source

[Journal Article] 新生児マススクリーニング先天性代謝異常等で異常値が出た時の対応2025

Author(s)

Journal Title

Data Source

[Journal Article] 今後導入が予定・期待される新生児スクリーニング2021

Author(s)

Journal Title

Data Source

[Presentation] 新生児スクリーニングの普及に対応した脊髄性筋萎縮症の新患者登録システムの始動2024

Author(s)

Organizer

Data Source

[Presentation] 新生児スクリーニングの普及に対応した脊髄性筋萎縮症の新患者登録システムの始動2024

Author(s)

Organizer

Data Source

[Presentation] Genomic analysis study of the SMN1 gene region in patients with clinically diagnosed SMA2022

Author(s)

Organizer

Data Source

[Presentation] SMN遺伝子領域のゲノム解析によるSMA患者の遺伝子型と表現型の研究2021

Author(s)

Organizer

Data Source

kato tamaki 加藤環

Tamaki Kato 加藤環