1. Liu, Chang-Yun, Lin, Ji-Lan, Feng, Shu-Yan, Huang, Hua-Pin, Zou, Zhang-Yu. . Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression. In Journal of clinical neurology (Seoul, Korea), 18, 41-47. doi:10.3988/jcn.2022.18.1.41. https://pubmed.ncbi.nlm.nih.gov/35021275/
2. Boura, Iro, Giannopoulou, Irene Areti, Pavlaki, Vasiliki, Mitsias, Panayiotis, Spanaki, Cleanthe. 2024. FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature. In Genes, 15, . doi:10.3390/genes15101344. https://pubmed.ncbi.nlm.nih.gov/39457468/
3. Bertolin, C, Querin, G, Bozzoni, V, Pegoraro, E, Sorarù, G. . New FIG4 gene mutations causing aggressive ALS. In European journal of neurology, 25, e41-e42. doi:10.1111/ene.13559. https://pubmed.ncbi.nlm.nih.gov/29464931/
4. Baulac, Stéphanie, Lenk, Guy M, Dufresnois, Béatrice, Meisler, Miriam H, Leguern, Eric. 2014. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. In Neurology, 82, 1068-75. doi:10.1212/WNL.0000000000000241. https://pubmed.ncbi.nlm.nih.gov/24598713/
5. Yilihamu, Mubalake, Liu, Xiaolu, Liu, Xiaoxuan, Chen, Yong, Fan, Dongsheng. 2022. Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis. In Frontiers in neurology, 13, 984866. doi:10.3389/fneur.2022.984866. https://pubmed.ncbi.nlm.nih.gov/36090855/
6. Shi, Yingxiao, Lin, Shaoyu, Staats, Kim A, Zlokovic, Berislav V, Ichida, Justin K. 2018. Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. In Nature medicine, 24, 313-325. doi:10.1038/nm.4490. https://pubmed.ncbi.nlm.nih.gov/29400714/
7. Presa, Maximiliano, Bailey, Rachel M, Davis, Crystal, Gray, Steven J, Lutz, Cathleen. . AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model. In The Journal of clinical investigation, 131, . doi:10.1172/JCI137159. https://pubmed.ncbi.nlm.nih.gov/33878035/
8. Lenk, Guy M, Berry, Ian R, Stutterd, Chloe A, Livingston, John H, Meisler, Miriam H. 2019. Cerebral hypomyelination associated with biallelic variants of FIG4. In Human mutation, 40, 619-630. doi:10.1002/humu.23720. https://pubmed.ncbi.nlm.nih.gov/30740813/