Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)Ichizo Nishino, Michio Hirano, Shin J. Oh et al.|Nature|2000Cited by 941
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly geneLefkothea C. Papadopoulou, Eric A. Schon, Carolyn M. Sue et al.|Nature Genetics|1999Cited by 571
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathyJoerg Halter, Michio Hirano, W. Michael et al.|Brain|2015Cited by 142
Nonsteroidal <scp>Anti‐inflammatory</scp> Use and <scp><i>LRRK2</i></scp> Parkinson's Disease PenetranceMarta San Luciano, Rachel Saunders‐Pullman, Caroline M. Tanner et al.|Movement Disorders|2020Cited by 87