1. Gowda, Mamatha, Mohan, Shruthi, Ramesh, Devika, Chinta, Navya. . Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene. In Clinical dysmorphology, 30, 100-103. doi:10.1097/MCD.0000000000000364. https://pubmed.ncbi.nlm.nih.gov/33491998/
2. Ahangari, Najmeh, Gholampour-Faroji, Nazanin, Doosti, Mohammad, Torbati, Paria Najarzadeh, Haddad-Mashadrizeh, Aliakbar. 2023. ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study. In Molecular genetics & genomic medicine, 11, e2153. doi:10.1002/mgg3.2153. https://pubmed.ncbi.nlm.nih.gov/36794879/
3. Li, Yinqing, Lopez-Huerta, Violeta G, Adiconis, Xian, Fu, Zhanyan, Feng, Guoping. 2020. Distinct subnetworks of the thalamic reticular nucleus. In Nature, 583, 819-824. doi:10.1038/s41586-020-2504-5. https://pubmed.ncbi.nlm.nih.gov/32699411/
4. Ullmann, Urielle, D'Argenzio, Luigi, Mathur, Shrey, Sarkozy, Anna, Muntoni, Francesco. 2018. ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects. In Neuromuscular disorders : NMD, 28, 741-749. doi:10.1016/j.nmd.2018.05.012. https://pubmed.ncbi.nlm.nih.gov/30131190/
5. 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/
6. Valdenaire, O, Rohrbacher, E, Langeveld, A, Schweizer, A, Meijers, C. . Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration. In The Biochemical journal, 346 Pt 3, 611-6. doi:. https://pubmed.ncbi.nlm.nih.gov/10698686/
7. Sato, Kota, Shiga, Yukihiro, Nakagawa, Yurika, Tsuda, Satoru, Nakazawa, Toru. . Ecel1 Knockdown With an AAV2-Mediated CRISPR/Cas9 System Promotes Optic Nerve Damage-Induced RGC Death in the Mouse Retina. In Investigative ophthalmology & visual science, 59, 3943-3951. doi:10.1167/iovs.18-23784. https://pubmed.ncbi.nlm.nih.gov/30073365/
8. Patil, Siddaramappa J, Rai, Gaurava Kumar, Bhat, Venkatraman, Matalia, Jyoti, Phadke, Shubha R. 2014. Distal arthrogryposis type 5D with a novel ECEL1 gene mutation. In American journal of medical genetics. Part A, 164A, 2857-62. doi:10.1002/ajmg.a.36702. https://pubmed.ncbi.nlm.nih.gov/25099528/
9. Valdenaire, O, Schweizer, A. . Endothelin-converting enzyme-like 1 (ECEL1; 'XCE'): a putative metallopeptidase crucially involved in the nervous control of respiration. In Biochemical Society transactions, 28, 426-30. doi:. https://pubmed.ncbi.nlm.nih.gov/10961933/
10. Nagata, Kenichi, Kiryu-Seo, Sumiko, Tamada, Hiromi, Kiyama, Hiroshi, Saido, Takaomi C. 2016. ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. In Acta neuropathologica, 132, 111-26. doi:10.1007/s00401-016-1554-0. https://pubmed.ncbi.nlm.nih.gov/26951213/
智鼠故事 
