Avraham Shaag

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

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

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

Chaya Miller, Ann Saada, Nava Shaul et al. · Annals of Neurology · 2004 · 228 citations

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo et al. · The American Journal of Human Genetics · 2009 · 224 citations · Full text

Hepatology, Genetic Disorder, Liver Physiology +12