Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
This work is supported by National Science and Technology Council grants and National Cheng Kung University Hospital.
Authors
- Yin‐Hsiu Chien (ORCID: https://orcid.org/0000-0001-8802-5728)
- Meng‐Che Tsai (ORCID: https://orcid.org/0000-0003-1057-3315)
- Peter Michael Krawitz (ORCID: https://orcid.org/0000-0002-3194-8625)
- Chia-Yi Li (ORCID: https://orcid.org/0009-0004-8853-2278)
- Hannah Klinkhammer (ORCID: https://orcid.org/0000-0003-3752-1275)
- Hui‐An Chen (ORCID: https://orcid.org/0000-0003-3786-9191)
- Sheng‐Hsiang Lin (ORCID: https://orcid.org/0000-0003-0263-3023)
- Wuh‐Liang Hwu (ORCID: https://orcid.org/0000-0001-6690-4879)
- Lynn L. H. Huang (ORCID: https://orcid.org/0000-0002-6602-7578)
- Yen‐Yin Chou (ORCID: https://orcid.org/0000-0003-3599-2284)
- Po‐Min Chiang (ORCID: https://orcid.org/0000-0002-4950-9292)
- Ni‐Chung Lee (ORCID: https://orcid.org/0000-0002-5011-7499)
- Tzung‐Chien Hsieh (ORCID: https://orcid.org/0000-0003-3828-4419)
- Yi‐Ting Huang (ORCID: https://orcid.org/0000-0002-3767-9614)
- Yu-Ming Chang (ORCID: https://orcid.org/0000-0002-4043-3383)
- Ju‐Li Lin (ORCID: https://orcid.org/0009-0006-0975-8514)
- Peng‐Chieh Chen (ORCID: https://orcid.org/0000-0002-2060-1765)
- P. J. Lin
- Min-Hsiu Shih (ORCID: https://orcid.org/0000-0003-4465-296X)
- Yi-Chieh Wang
- Pen-Hua Su
- Li‐Wen Chen (ORCID: https://orcid.org/0000-0002-4013-8333)
Institutions
- University of Bonn (DE)
- China Medical University (TW)
- University Hospital Bonn (DE)
- Chang Gung Memorial Hospital (TW)
- Chung Shan Medical University Hospital (TW)
- China Medical University Hospital (TW)
- National Taiwan University Hospital (TW)
- National Cheng Kung University Hospital (TW)
- Chung Shan Medical University (TW)
- National Cheng Kung University (TW)
Publication Details
- Journal
- EBioMedicine
- Published
- 2024-11-29
- DOI
- https://doi.org/10.1016/j.ebiom.2024.105476
- Citations
- 6
- Primary Topic
- Moyamoya disease diagnosis and treatment
- Type
- article
- Field-Weighted Citation Impact
- 2.82
Funders
- National Cheng Kung University Hospital
- National Cheng Kung University
- National Science and Technology Council