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Characterization of the Asian myopathy patients with VCP mutations.
Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I. Shi Z, et al. Among authors: mitsuhashi s. Eur J Neurol. 2012 Mar;19(3):501-9. doi: 10.1111/j.1468-1331.2011.03575.x. Epub 2011 Oct 31. Eur J Neurol. 2012. PMID: 22040362
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I. Arai A, et al. Among authors: mitsuhashi s. Neuromuscul Disord. 2009 Jul;19(7):485-8. doi: 10.1016/j.nmd.2009.06.366. Epub 2009 Jun 23. Neuromuscul Disord. 2009. PMID: 19553121
Distal myopathy in multi-minicore disease.
Mitsuhashi S, Nonaka I, Wu S, Moreno CA, Shalaby S, Hayashi YK, Noguchi S, Nishino I. Mitsuhashi S, et al. Intern Med. 2009;48(19):1759-62. doi: 10.2169/internalmedicine.48.2425. Epub 2009 Oct 1. Intern Med. 2009. PMID: 19797833 Free 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: mitsuhashi h. 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.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: mitsuhashi s. Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28. Neurogenetics. 2012. PMID: 22371254 Free PMC article.
848 results