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UsnRNP biogenesis: mechanisms and regulation.
Gruss OJ, Meduri R, Schilling M, Fischer U. Gruss OJ, et al. Among authors: schilling m. Chromosoma. 2017 Oct;126(5):577-593. doi: 10.1007/s00412-017-0637-6. Epub 2017 Aug 1. Chromosoma. 2017. PMID: 28766049 Review.
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R. Smigiel R, et al. Among authors: schilling m. Eur J Hum Genet. 2018 Oct;26(10):1502-1511. doi: 10.1038/s41431-018-0179-2. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899372 Free PMC article.