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Page 1
Novel preclinical model for CDKL5 deficiency disorder.
Dis Model Mech. 2022 Mar 1;15(3):dmm049094. doi: 10.1242/dmm.049094. Epub 2022 Mar 8.
Dis Model Mech. 2022.
PMID: 34913468
Free PMC article.
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: serrano rj.
Autophagy. 2021 Sep;17(9):2494-2510. doi: 10.1080/15548627.2020.1833500. Epub 2020 Oct 19.
Autophagy. 2021.
PMID: 33030392
Free PMC article.
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Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities.
Serrano RJ, Oorschot V, Palipana D, Calcinotto V, Sonntag C, Ramm G, Bryson-Richardson RJ.
Serrano RJ, et al.
Brain Commun. 2023 Nov 20;5(6):fcad317. doi: 10.1093/braincomms/fcad317. eCollection 2023.
Brain Commun. 2023.
PMID: 38046095
Free PMC article.
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