Shanske, Sara
2 papers on CoChat
Most cited papers
- Verified
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Nishino, I., Fu, J., Tanji, K., Yamada, T., Shimojo, S., Koori, T., Mora, M., Riggs, J. E., Oh, S. J., Koga, Y., et al. (2000) · Nature
Glycogen Storage Diseases and MyoclonusLysosomal Storage Disorders Research
Cited by 959
- Verified
A functionally dominant mitochondrial DNA mutation
Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., et al. (2008) · Human Molecular Genetics
Mitochondrial Function and PathologyMetabolism and Genetic Disorders
Cited by 113
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