1. Marcogliese, Paul C, Shashi, Vandana, Spillmann, Rebecca C, Bellen, Hugo J, Pena, Loren D M. 2018. IRF2BPL Is Associated with Neurological Phenotypes. In American journal of human genetics, 103, 245-260. doi:10.1016/j.ajhg.2018.07.006. https://pubmed.ncbi.nlm.nih.gov/30057031/
2. Yang, Fei, Li, Hui, Dai, Yi, Zhang, Ran, Zhang, Jiang-Tao. 2023. IRF2BPL gene variants with dystonia: one new Chinese case report. In BMC neurology, 23, 32. doi:10.1186/s12883-023-03077-x. https://pubmed.ncbi.nlm.nih.gov/36670390/
3. Bauersachs, Daniel, Bomholtz, Louise, Del Rey Mateos, Sara, Kühn, Ralf, Lisowski, Pawel. 2024. Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues. In Frontiers in neuroscience, 18, 1426177. doi:10.3389/fnins.2024.1426177. https://pubmed.ncbi.nlm.nih.gov/38903604/
4. Sinha Ray, Shrestha, Dutta, Debdeep, Dennys, Cassandra, Marcogliese, Paul C, Meyer, Kathrin C. . Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy. In Cell reports, 41, 111751. doi:10.1016/j.celrep.2022.111751. https://pubmed.ncbi.nlm.nih.gov/36476864/
5. Heide, Solveig, Davoine, Claire-Sophie, Cunha, Paulina, Brice, Alexis, Durr, Alexandra. 2023. IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia. In Neurology. Genetics, 9, e200096. doi:10.1212/NXG.0000000000200096. https://pubmed.ncbi.nlm.nih.gov/38235039/
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