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1966 1
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1986 1
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Page 1
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto Y, Cox GA, Nishino I. Mitsuhashi S, et al. Among authors: karahashi m. Hum Mol Genet. 2011 Oct 1;20(19):3841-51. doi: 10.1093/hmg/ddr305. Epub 2011 Jul 12. Hum Mol Genet. 2011. PMID: 21750112 Free PMC article.
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. Mitsuhashi S, et al. Among authors: karahashi m. Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010. Am J Hum Genet. 2011. PMID: 21665002 Free PMC article.
17 results