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SMARCA4-associated schwannomatosis.
Chan-Pak-Choon F, Roca C, Chong AS, Nogué C, Dahlum S, Austin R, Mar Fan H, van Spaendonck-Zwarts KY, Lambie NK, Robertson T, Siebert R, Rivera B, Foulkes WD. Chan-Pak-Choon F, et al. Acta Neuropathol. 2023 Apr;145(4):505-507. doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14. Acta Neuropathol. 2023. PMID: 36786840 No abstract available.
Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition.
Vo T, Balderson B, Jones K, Ni G, Crawford J, Millar A, Tolson E, Singleton M, Kojic M, Robertson T, Walters S, Mulay O, Bhuva DD, Davis MJ, Wainwright BJ, Nguyen Q, Genovesi LA. Vo T, et al. Genome Med. 2023 May 1;15(1):29. doi: 10.1186/s13073-023-01185-4. Genome Med. 2023. PMID: 37127652 Free PMC article.
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Corbett MA, Schwake M, Bahlo M, Dibbens LM, Lin M, Gandolfo LC, Vears DF, O'Sullivan JD, Robertson T, Bayly MA, Gardner AE, Vlaar AM, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Lehesjoki AE, Gecz J, Berkovic SF. Corbett MA, et al. Am J Hum Genet. 2011 May 13;88(5):657-63. doi: 10.1016/j.ajhg.2011.04.011. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549339 Free PMC article.
16 results