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LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.
Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T. Sugimoto S, et al. Among authors: nishino i. Intern Med. 2007;46(11):757-60. doi: 10.2169/internalmedicine.46.6265. Epub 2007 Jun 1. Intern Med. 2007. PMID: 17541230 Free article.
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. Among authors: nishino i. Intern Med. 2009;48(19):1759-62. doi: 10.2169/internalmedicine.48.2425. Epub 2009 Oct 1. Intern Med. 2009. PMID: 19797833 Free article.
Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence.
Muraoka T, Murao K, Imachi H, Kikuchi F, Yoshimoto T, Iwama H, Hosokawa H, Nishino I, Fukuda T, Sugie H, Adachi K, Nanba E, Ishida T. Muraoka T, et al. Among authors: nishino i. Intern Med. 2011;50(24):2987-91. doi: 10.2169/internalmedicine.50.5563. Epub 2011 Dec 15. Intern Med. 2011. PMID: 22185990 Free article.
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S. Mukai M, et al. Among authors: nishino i. Intern Med. 2017;56(1):95-99. doi: 10.2169/internalmedicine.56.7301. Epub 2017 Jan 1. Intern Med. 2017. PMID: 28050007 Free PMC article.
753 results