TBK1 p.Y153Qfs*9 variant may be associated with young-onset, rapidly progressive amyotrophic lateral sclerosis through a haploinsufficiency mechanism
The heterozygous TBK1 p.Y153Qfs*9 variant may be associated with young-onset, rapidly progressive ALS through a haploinsufficiency mechanism.
Authors
- Fang‐Chi Hsu (ORCID: https://orcid.org/0000-0002-3310-184X)
- Yi‐Chu Liao (ORCID: https://orcid.org/0000-0002-9644-2086)
- Yi‐Chung Lee (ORCID: https://orcid.org/0000-0003-0102-164X)
- Chih-Chao Yang (ORCID: https://orcid.org/0000-0001-6338-9875)
- Kang-Yang Jih
- Shih-Yu Fang
- Pei‐Chien Tsai (ORCID: https://orcid.org/0000-0001-7303-0516)
Institutions
- National Yang Ming Chiao Tung University (TW)
- National Chung Hsing University (TW)
- Taipei Veterans General Hospital (TW)
- National Taiwan University Hospital (TW)
Publication Details
- Journal
- Journal of the Chinese Medical Association
- Published
- 2024-08-09
- DOI
- https://doi.org/10.1097/jcma.0000000000001147
- Citations
- 1
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.37
Funders
- Ministry of Science and Technology, Taiwan
- Taipei Veterans General Hospital