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Metformin rescues muscle function in BAG3 myofibrillar myopathy models.
Ruparelia AA, McKaige EA, Williams C, Schulze KE, Fuchs M, Oorschot V, Lacene E, Meregalli M, Lee C, Serrano RJ, Baxter EC, Monro K, Torrente Y, Ramm G, Stojkovic T, Lavoie JN, Bryson-Richardson RJ. Ruparelia AA, et al. Among authors: williams c. Autophagy. 2021 Sep;17(9):2494-2510. doi: 10.1080/15548627.2020.1833500. Epub 2020 Oct 19. Autophagy. 2021. PMID: 33030392 Free PMC article.
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
Sztal TE, Zhao M, Williams C, Oorschot V, Parslow AC, Giousoh A, Yuen M, Hall TE, Costin A, Ramm G, Bird PI, Busch-Nentwich EM, Stemple DL, Currie PD, Cooper ST, Laing NG, Nowak KJ, Bryson-Richardson RJ. Sztal TE, et al. Among authors: williams c. Acta Neuropathol. 2015 Sep;130(3):389-406. doi: 10.1007/s00401-015-1430-3. Epub 2015 May 1. Acta Neuropathol. 2015. PMID: 25931053 Free PMC article.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST. O'Grady GL, et al. Among authors: williams c. Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745833 Free PMC article.
Functional validation of CHMP7 as an ADHD risk gene.
Dark C, Williams C, Bellgrove MA, Hawi Z, Bryson-Richardson RJ. Dark C, et al. Among authors: williams c. Transl Psychiatry. 2020 Nov 6;10(1):385. doi: 10.1038/s41398-020-01077-w. Transl Psychiatry. 2020. PMID: 33159045 Free PMC article.
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