1. Tian, Yuan, Xing, Jinfang, Shi, Ying, Yuan, Enwu. 2023. Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review. In Frontiers in neuroscience, 17, 1252075. doi:10.3389/fnins.2023.1252075. https://pubmed.ncbi.nlm.nih.gov/38046662/
2. Tazir, Meriem, Nouioua, Sonia. 2024. Distal hereditary motor neuropathies. In Revue neurologique, 180, 1031-1036. doi:10.1016/j.neurol.2023.09.005. https://pubmed.ncbi.nlm.nih.gov/38702287/
3. Rzepnikowska, Weronika, Kaminska, Joanna, Kochański, Andrzej. 2022. Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model. In International journal of molecular sciences, 23, . doi:10.3390/ijms23179913. https://pubmed.ncbi.nlm.nih.gov/36077311/
4. Yavas, Cüneyd, Dogan, Mustafa, Ozgor, Bilge, Akbulut, Ekrem, Eroz, Recep. 2024. Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review. In Brain & development, 47, 104313. doi:10.1016/j.braindev.2024.104313. https://pubmed.ncbi.nlm.nih.gov/39705914/
5. Prusty, Archana Bairavasundaram, Hirmer, Anja, Sierra-Delgado, Julieth Andrea, Erhard, Florian, Fischer, Utz. 2024. RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis. In Cell reports, 43, 113802. doi:10.1016/j.celrep.2024.113802. https://pubmed.ncbi.nlm.nih.gov/38368610/
6. Park, Jesslyn E, Desai, Hetvee, Liboy-Lugo, José, Xu, Albert, Floor, Stephen N. 2023. IGHMBP2 deletion suppresses translation and activates the integrated stress response. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.12.11.571166. https://pubmed.ncbi.nlm.nih.gov/38168189/
7. Rzepnikowska, Weronika, Kaminska, Joanna, Kochański, Andrzej. . The molecular mechanisms that underlie IGHMBP2-related diseases. In Neuropathology and applied neurobiology, 50, e13005. doi:10.1111/nan.13005. https://pubmed.ncbi.nlm.nih.gov/39119929/
8. Lin, Xiang, Zhang, Qi-Jie, He, Jin, Wang, Ning, Chen, Wan-Jin. 2013. Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies. In Journal of child neurology, 29, NP35-9. doi:10.1177/0883073813497827. https://pubmed.ncbi.nlm.nih.gov/24022109/