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GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Issop Y, et al. Among authors: spendiff s. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. Hum Mol Genet. 2018. PMID: 29905857 Free PMC article.
Failed upregulation of TFAM protein and mitochondrial DNA in oxidatively deficient fibers of chronic obstructive pulmonary disease locomotor muscle.
Konokhova Y, Spendiff S, Jagoe RT, Aare S, Kapchinsky S, MacMillan NJ, Rozakis P, Picard M, Aubertin-Leheudre M, Pion CH, Bourbeau J, Hepple RT, Taivassalo T. Konokhova Y, et al. Among authors: spendiff s. Skelet Muscle. 2016 Feb 18;6:10. doi: 10.1186/s13395-016-0083-9. eCollection 2016. Skelet Muscle. 2016. PMID: 26893822 Free PMC article.
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