Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathyAnn Saada, Orly Elpeleg, Avraham Shaag et al.|Nature Genetics|2001Cited by 618
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNAHanna Mandel, Nadine Cohen, Raymonde Szargel et al.|Nature Genetics|2001Cited by 584
Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar HypoplasiaSimon Edvardson, Orly Elpeleg, Avraham Shaag et al.|The American Journal of Human Genetics|2007Cited by 331
Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA DepletionOrly Elpeleg, Ann Saada, Chaya Miller et al.|The American Journal of Human Genetics|2005Cited by 313
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutationChaya Miller, Orly Elpeleg, Ann Saada et al.|Annals of Neurology|2004Cited by 233