1. Chen, Chih-Ling, Lee, Chien-Nan, Chien, Yin-Hsiu, Chang, Tung-Ming, Lee, Ni-Chung. 2021. Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy. In Children (Basel, Switzerland), 8, . doi:10.3390/children8121140. https://pubmed.ncbi.nlm.nih.gov/34943336/
2. Ikeda, Toshio, Nakahara, Akihiko, Nagano, Rie, Tsuji, Shoji, Nunoi, Hiroyuki. 2016. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. In Journal of human genetics, 62, 473-480. doi:10.1038/jhg.2016.149. https://pubmed.ncbi.nlm.nih.gov/27928163/
3. Wang, Liyuan, Zhao, Chuchu, Zheng, Tao, Zhao, Baowen, Liu, Ping. 2021. Torin 1 alleviates impairment of TFEB-mediated lysosomal biogenesis and autophagy in TGFBI (p.G623_H626del)-linked Thiel-Behnke corneal dystrophy. In Autophagy, 18, 765-782. doi:10.1080/15548627.2021.1955469. https://pubmed.ncbi.nlm.nih.gov/34403298/
4. Manoochehri, Mehdi, Borhani, Nasim, Gerhäuser, Clarissa, Ko, Yon-Dschun, Hamann, Ute. 2022. DNA methylation biomarkers for noninvasive detection of triple-negative breast cancer using liquid biopsy. In International journal of cancer, 152, 1025-1035. doi:10.1002/ijc.34337. https://pubmed.ncbi.nlm.nih.gov/36305646/
5. Edvardson, Shimon, Tian, Guoling, Cullen, Hayley, Heng, Julian Ik-Tsen, Elpeleg, Orly. . Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway. In Human molecular genetics, 25, 4635-4648. doi:10.1093/hmg/ddw292. https://pubmed.ncbi.nlm.nih.gov/28158450/
6. Miyake, Noriko, Fukai, Ryoko, Ohba, Chihiro, Saitsu, Hirotomo, Matsumoto, Naomichi. 2016. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. In American journal of human genetics, 99, 950-961. doi:10.1016/j.ajhg.2016.08.005. https://pubmed.ncbi.nlm.nih.gov/27666374/
7. Martínez-Rubio, Dolores, Hinarejos, Isabel, Argente-Escrig, Herminia, Aguilera-Albesa, Sergio, Espinós, Carmen. 2023. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. In International journal of molecular sciences, 24, . doi:10.3390/ijms242216400. https://pubmed.ncbi.nlm.nih.gov/38003592/
8. Zhang, Yunjian, Zhang, Linmei, Zhou, Shuizhen. 2019. Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature. In Neuropediatrics, 51, 68-71. doi:10.1055/s-0039-1698423. https://pubmed.ncbi.nlm.nih.gov/31569255/
智鼠故事 
