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2012 2
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Page 1
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I. Liang WC, et al. Among authors: endo y. Rheumatology (Oxford). 2017 Feb;56(2):287-293. doi: 10.1093/rheumatology/kew386. Epub 2016 Nov 6. Rheumatology (Oxford). 2017. PMID: 27818386 Free PMC article.
IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I. Ishiyama A, et al. Among authors: endo y. Neurol Genet. 2017 Sep 8;3(5):e184. doi: 10.1212/NXG.0000000000000184. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28913435 Free PMC article.
Milder forms of muscular dystrophy associated with POMGNT2 mutations.
Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I. Endo Y, et al. Neurol Genet. 2015 Dec 10;1(4):e33. doi: 10.1212/NXG.0000000000000033. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066570 Free PMC article.
24 results