1. El-Hattab, Ayman W, Craigen, William J, Scaglia, Fernando. 2017. Mitochondrial DNA maintenance defects. In Biochimica et biophysica acta. Molecular basis of disease, 1863, 1539-1555. doi:10.1016/j.bbadis.2017.02.017. https://pubmed.ncbi.nlm.nih.gov/28215579/
2. França, Monica Malheiros, Mendonca, Berenice Bilharinho. 2021. Genetics of ovarian insufficiency and defects of folliculogenesis. In Best practice & research. Clinical endocrinology & metabolism, 36, 101594. doi:10.1016/j.beem.2021.101594. https://pubmed.ncbi.nlm.nih.gov/34794894/
3. Hu, Bowen, Yang, Minmin, Liao, Zhiying, Zhang, Xiquan, Li, Hongmei. 2020. Mutation of TWNK Gene Is One of the Reasons of Runting and Stunting Syndrome Characterized by mtDNA Depletion in Sex-Linked Dwarf Chicken. In Frontiers in cell and developmental biology, 8, 581. doi:10.3389/fcell.2020.00581. https://pubmed.ncbi.nlm.nih.gov/32766243/
4. Fekete, Bálint, Pentelényi, Klára, Rudas, Gabor, Domonkos, Andor, Molnar, Maria Judit. 2019. Broadening the phenotype of the TWNK gene associated Perrault syndrome. In BMC medical genetics, 20, 198. doi:10.1186/s12881-019-0934-4. https://pubmed.ncbi.nlm.nih.gov/31852434/
5. Wei, Lan, Hou, Ling, Ying, Yan-Qin, Luo, Xiao-Ping. 2022. A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature. In Pharmacogenomics and personalized medicine, 15, 1-8. doi:10.2147/PGPM.S341172. https://pubmed.ncbi.nlm.nih.gov/35035228/
6. Megarbane, Andre, Bizzari, Sami, Deepthi, Asha, Delague, Valérie, Urtizberea, J Andoni. . A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort. In Journal of neuromuscular diseases, 9, 193-210. doi:10.3233/JND-210652. https://pubmed.ncbi.nlm.nih.gov/34602496/
7. Percetti, Marco, Franco, Giulia, Monfrini, Edoardo, Carelli, Valerio, Di Fonzo, Alessio. 2022. TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study. In Movement disorders : official journal of the Movement Disorder Society, 37, 1938-1943. doi:10.1002/mds.29139. https://pubmed.ncbi.nlm.nih.gov/35792653/
8. Shekari, Saleh, Stankovic, Stasa, Gardner, Eugene J, Perry, John R B, Murray, Anna. 2023. Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency. In Nature medicine, 29, 1692-1699. doi:10.1038/s41591-023-02405-5. https://pubmed.ncbi.nlm.nih.gov/37349538/
智鼠故事 
