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Page 1
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study; Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: capponi s. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 Free PMC article.
Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism.
Capponi S, Stöffler N, Penney EB, Grütz K, Nizamuddin S, Vermunt MW, Castelijns B, Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Muñoz EL, Ang MA, Diesta CCE, Creyghton MP, Klein C, Bragg DC, De Rijk P, Timmers HTM. Capponi S, et al. Brain Commun. 2021 Oct 27;3(4):fcab253. doi: 10.1093/braincomms/fcab253. eCollection 2021. Brain Commun. 2021. PMID: 34746789 Free PMC article.
Co-translational assembly of mammalian nuclear multisubunit complexes.
Kamenova I, Mukherjee P, Conic S, Mueller F, El-Saafin F, Bardot P, Garnier JM, Dembele D, Capponi S, Timmers HTM, Vincent SD, Tora L. Kamenova I, et al. Among authors: capponi s. Nat Commun. 2019 Apr 15;10(1):1740. doi: 10.1038/s41467-019-09749-y. Nat Commun. 2019. PMID: 30988355 Free PMC article.
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Echaniz-Laguna A, et al. Among authors: capponi s. Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25. Hum Mutat. 2017. PMID: 28144995
Neuronal-specific microexon splicing of TAF1 mRNA is directly regulated by SRRM4/nSR100.
Capponi S, Stöffler N, Irimia M, Van Schaik FMA, Ondik MM, Biniossek ML, Lehmann L, Mitschke J, Vermunt MW, Creyghton MP, Graybiel AM, Reinheckel T, Schilling O, Blencowe BJ, Crittenden JR, Timmers HTM. Capponi S, et al. RNA Biol. 2020 Jan;17(1):62-74. doi: 10.1080/15476286.2019.1667214. Epub 2019 Sep 27. RNA Biol. 2020. PMID: 31559909 Free PMC article.
Contribution of copy number variations in CMT1X: a retrospective study.
Capponi S, Geroldi A, Pezzini I, Gulli R, Ciotti P, Ursino G, Lamp M, Reni L, Schenone A, Grandis M, Mandich P, Bellone E. Capponi S, et al. Eur J Neurol. 2015 Feb;22(2):406-9. doi: 10.1111/ene.12434. Epub 2014 Apr 12. Eur J Neurol. 2015. PMID: 24724718
74 results