Concepedia

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel,

The American Journal of Human Genetics · 2009 · 227 citations · 16 references

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16

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

Hanna Mandel, Raymonde Szargel, Valentina Labay et al. · Nature Genetics · 2001 · 585 citations

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<i>POLG</i> mutations associated with Alpers' syndrome and mitochondrial DNA depletion

Robert K. Naviaux, Khue Vu Nguyen · Annals of Neurology · 2004 · 460 citations

, , +17

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra et al. · Nature Genetics · 2006 · 418 citations

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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 · 331 citations · Full text

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

Chaya Miller, Ann Saada, Nava Shaul et al. · Annals of Neurology · 2004 · 233 citations

, , +17