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
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
Authors:
Smeitink, Jan A.M.
Elpeleg, Orly
Antonicka, Anna
Diepstra, Heleen
Saada, Ann
Smits, Paulien
Sasarman, Florin
Vriend, Gert
Jacob-Hirsch, Jasmine
Shaag, Avraham
Rechavi, Gideon
Welling, Brigitte
Horst, Jürgen
Rodenburg, Richard J.
Van den Heuvel, Bert
Shoubridge, Eric A.
Citation: Smeitink, Jan A.m et al., Distinct Clinical Phenotypes Associated with a Mutation in the Mitochondrial Translation Elongation Factor EFTs, American journal of human genetics , 79(5), 2006, pp. 869-877