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Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial DisorderIchizo Nishino, Michio Hirano, Antonella Spinazzola|Science|1999Cited by 897
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly geneLefkothea C. Papadopoulou, Eric A. Schon, Jeanette M Selby et al.|Nature Genetics|1999Cited by 571
Distinctive patterns of microRNA expression in primary muscular disordersIris Eisenberg, Louis M. Kunkel, Alal Eran et al.|Proceedings of the National Academy of Sciences|2007Cited by 509
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophyYukiko Hayashi, Ichizo Nishino|Journal of Clinical Investigation|2009Cited by 393