1. 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/
2. Ando, Masahiro, Higuchi, Yujiro, Okamoto, Yuji, Tsuji, Shoji, Takashima, Hiroshi. 2022. An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. In Journal of human genetics, 67, 399-403. doi:10.1038/s10038-022-01019-y. https://pubmed.ncbi.nlm.nih.gov/35091664/
3. Marriott, Heather, Spargo, Thomas P, Al Khleifat, Ahmad, Al-Chalabi, Ammar, Iacoangeli, Alfredo. 2024. Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS. In Annals of clinical and translational neurology, 11, 1775-1786. doi:10.1002/acn3.52083. https://pubmed.ncbi.nlm.nih.gov/38775181/
4. Qiuju, He, Jianlong, Zhuang, Qi, Wen, Xiaofang, Sun, Yingjun, Xie. 2022. Epilepsy Combined With Multiple Gene Heterozygous Mutation. In Frontiers in pediatrics, 10, 763642. doi:10.3389/fped.2022.763642. https://pubmed.ncbi.nlm.nih.gov/35299674/
5. Su, Zhiyong, Wang, Guanghui, Li, Leilei. . CHRDL1, NEFH, TAGLN and SYNM as novel diagnostic biomarkers of benign prostatic hyperplasia and prostate cancer. In Cancer biomarkers : section A of Disease markers, 38, 143-159. doi:10.3233/CBM-230028. https://pubmed.ncbi.nlm.nih.gov/37781794/
6. Koudonas, Antonios, Papaioannou, Maria, Kampantais, Spyridon, Hatzimouratidis, Konstantinos, Dimitriadis, Georgios. 2022. Methylation of PCDH17 and NEFH as prognostic biomarker for nonmetastatic RCC: A cohort study. In Medicine, 101, e29599. doi:10.1097/MD.0000000000029599. https://pubmed.ncbi.nlm.nih.gov/35838992/
7. Charalampopoulou, Andriana, Veltsista, Dimitra, Taraviras, Stavros, Chroni, Elisabeth. 2021. First case report of Charcot-Marie-Tooth disease type 2CC with a frameshift mutation of NEFH gene in Greece. In Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 42, 4377-4379. doi:10.1007/s10072-021-05402-z. https://pubmed.ncbi.nlm.nih.gov/34275023/
智鼠故事 
