Orly Elpeleg

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel et al. · Nature Genetics · 2001 · 614 citations

Mitochondrial Myopathy, Mitochondrial Function, Natural Sciences +4

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

Hanna Mandel, Raymonde Szargel, Valentina Labay et al. · Nature Genetics · 2001 · 582 citations

Mitochondrial Function, Natural Sciences, Genetics +7

Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova et al. · The American Journal of Human Genetics · 2007 · 329 citations · Full text

Biology, Deleterious Mutation, Mitochondrial Biogenesis +10

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

Simon Edvardson, Yuval Cinnamon, Asaf Ta‐Shma et al. · PLoS ONE · 2012 · 312 citations · Full text

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

Orly Elpeleg, Chaya Miller, Eli Hershkovitz et al. · The American Journal of Human Genetics · 2005 · 311 citations · Full text

Cellular Enzymology, Mitochondrial Function, Biochemistry +7