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Results: 1-4 |
Results: 4
Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy
Authors: Antonicka, Hana Mattman, Andre Carlson, Christopher G. Glerum, D. Moira Hoffbuhr, Kristen C. Leary, Scot C. Kennaway, Nancy G. Shoubridge, Eric A.
Citation: Antonicka, Hana et al., Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy, American journal of human genetics , 72(1), 2003, pp. 101-114
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Authors: Antonicka, Hana Østergaard, Elsebet Sasarman, Florin Weraarpachai, Woranontee Shoubridge, Eric A.
Citation: Antonicka, Hana et al., Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect, American journal of human genetics (Online) AJHG , 87(1), 2010, pp. 115-122
Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis
Authors: Weraarpachai, Woranontee Sasarman, Florin Nishimura, Tamiko Antonicka, Hana
Citation: Weraarpachai, Woranontee et al., Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis, American journal of human genetics (Online) AJHG , 90(1), 2012, pp. 142-151
An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect
Authors: Janer, Alexandre Antonicka, Hana Lalonde, Emilie
Citation: Janer, Alexandre et al., An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect, American journal of human genetics (Online) AJHG , 91(4), 2012, pp. 737-743
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