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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 2
2006 3
2007 2
2008 2
2009 8
2010 6
2011 11
2012 6
2013 8
2014 5
2015 5
2016 2
2017 3
2018 5
2019 11
2020 12
2021 15
2022 9
2023 2
2024 1

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109 results

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Page 1
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: wilton sd. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.
Huang D, Thompson JA, Chen SC, Adams A, Pitout I, Lima A, Zhang D, Jeffery RCH, Attia MS, McLaren TL, Lamey TM, De Roach JN, McLenachan S, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK. Huang D, et al. Among authors: wilton sd. Exp Eye Res. 2022 Dec;225:109276. doi: 10.1016/j.exer.2022.109276. Epub 2022 Oct 6. Exp Eye Res. 2022. PMID: 36209838 Free article.
Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S. Zaw K, et al. Among authors: wilton sd. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):369-379. doi: 10.1097/APO.0000000000000546. Epub 2022 Aug 17. Asia Pac J Ophthalmol (Phila). 2022. PMID: 36041150 Free article. Review.
Single Stranded Fully Modified-Phosphorothioate Oligonucleotides can Induce Structured Nuclear Inclusions, Alter Nuclear Protein Localization and Disturb the Transcriptome In Vitro.
Flynn LL, Li R, Pitout IL, Aung-Htut MT, Larcher LM, Cooper JAL, Greer KL, Hubbard A, Griffiths L, Bond CS, Wilton SD, Fox AH, Fletcher S. Flynn LL, et al. Among authors: wilton sd. Front Genet. 2022 Apr 6;13:791416. doi: 10.3389/fgene.2022.791416. eCollection 2022. Front Genet. 2022. PMID: 35464859 Free PMC article.
109 results