Sara Shanske

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

Carlos T. Moraes, Salvatore DiMauro, Massimo Zeviani et al. · New England Journal of Medicine · 1989 · 1K citations

Medicine, Genetics, Ophthalmology +17

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Ichizo Nishino, Jin Fu, Kurenai Tanji et al. · Nature · 2000 · 942 citations

Medicine, Cardiology, Pathology +5

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Carlos T. Moraes, Sara Shanske, Hans Tritschler et al. · PubMed · 1991 · 590 citations

Life Sciences, Genetics, Molecular Genetics +16

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Lefkothea C. Papadopoulou, Carolyn M. Sue, Mercy M. Davidson et al. · Nature Genetics · 1999 · 571 citations

Life Sciences, Genetics, Molecular Genetics +10

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske et al. · Annals of Neurology · 1992 · 509 citations

Life Sciences, Genetics, Molecular Genetics +17