Concepedia

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

Itai Berger, Ziva Ben‐Neriah, Talia Dor-Wolman, Avraham Shaag, Ann Saada, Shamir Zenvirt, Annick Raas‐Rothschild, Michel Nadjari, Klaus H. Kaestner, Orly Elpeleg

Molecular Genetics and Metabolism · 2011 · 87 citations · 10 references

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10

Molecular characterization of mitochondrial apoptosis-inducing factor

Santos A. Susín, Hans Kristian Lorenzo, Naoufal Zamzami et al. · Nature · 1999 · 4K citations

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AIF deficiency compromises oxidative phosphorylation

Nicola Vahsen, Céline Candé, Jean-Jacques Brière et al. · The EMBO Journal · 2004 · 625 citations · Full text

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Calpain I Induces Cleavage and Release of Apoptosis-inducing Factor from Isolated Mitochondria

Brian M. Polster, Gorka Basáñez, Aitor Etxebarria et al. · Journal of Biological Chemistry · 2004 · 430 citations · Full text

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Systematic identification of human mitochondrial disease genes through integrative genomics

Sarah E. Calvo, Mohit Jain, Xiaohui Xie et al. · Nature Genetics · 2006 · 344 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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