1. Wilke, Carlo, Pellerin, David, Mengel, David, Brais, Bernard, Synofzik, Matthis. . GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. In Brain : a journal of neurology, 146, 4144-4157. doi:10.1093/brain/awad157. https://pubmed.ncbi.nlm.nih.gov/37165652/
2. Pellerin, David, Danzi, Matt C, Wilke, Carlo, Zuchner, Stephan, Brais, Bernard. 2022. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. In The New England journal of medicine, 388, 128-141. doi:10.1056/NEJMoa2207406. https://pubmed.ncbi.nlm.nih.gov/36516086/
3. Rafehi, Haloom, Read, Justin, Szmulewicz, David J, Bahlo, Melanie, Lockhart, Paul J. 2022. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. In American journal of human genetics, 110, 105-119. doi:10.1016/j.ajhg.2022.11.015. https://pubmed.ncbi.nlm.nih.gov/36493768/
4. Zeng, Yi-Heng, Gan, Shi-Rui, Chen, Wan-Jin. . Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. In The New England journal of medicine, 388, e70. doi:10.1056/NEJMc2301605. https://pubmed.ncbi.nlm.nih.gov/37224214/
5. Pellerin, David, Heindl, Felix, Wilke, Carlo, Strupp, Michael, Synofzik, Matthis. 2024. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort. In EBioMedicine, 102, 105076. doi:10.1016/j.ebiom.2024.105076. https://pubmed.ncbi.nlm.nih.gov/38507876/
6. Zhang, Ming, Wang, Jue, Jin, Yucui, Wu, Hao, Ma, Changyan. 2022. YTHDF2-mediated FGF14-AS2 decay promotes osteolytic metastasis of breast cancer by enhancing RUNX2 mRNA translation. In British journal of cancer, 127, 2141-2153. doi:10.1038/s41416-022-02006-y. https://pubmed.ncbi.nlm.nih.gov/36216883/
7. Li, Rubing, Chen, Yingcong, Wu, Jingwei, Wu, Yiming, Wang, Feng. 2021. LncRNA FGF14-AS2 represses growth of prostate carcinoma cells via modulating miR-96-5p/AJAP1 axis. In Journal of clinical laboratory analysis, 35, e24012. doi:10.1002/jcla.24012. https://pubmed.ncbi.nlm.nih.gov/34655124/
8. Pellerin, David, Heindl, Felix, Wilke, Carlo, Strupp, Michael, Synofzik, Matthis. 2023. Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response. In medRxiv : the preprint server for health sciences, , . doi:10.1101/2023.07.30.23293380. https://pubmed.ncbi.nlm.nih.gov/37577458/
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