Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

Por Weraarpachai, Woranontee, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Auré, Karine, Rötig, Agnès, Lombès, Anne, Shoubridge, Eric A.
Publicado em 2012

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Por Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P
Publicado em 2011

The 3′ addition of CCA to mitochondrial tRNA(Ser(AGY)) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

Por Sasarman, Florin, Thiffault, Isabelle, Weraarpachai, Woranontee, Salomon, Steven, Maftei, Catalina, Gauthier, Julie, Ellazam, Benjamin, Webb, Neil, Antonicka, Hana, Janer, Alexandre, Brunel-Guitton, Catherine, Elpeleg, Orly, Mitchell, Grant, Shoubridge, Eric A.
Publicado no Hum Mol Genet (2015)

Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome

Por Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Weraarpachai, Woranontee, Shoubridge, Eric A., Allen, Bruce, Burelle, Yan, Charron, Guy, Coderre, Lise, DesRosiers, Christine, Laprise, Catherine, Morin, Charles, Rioux, John, Shoubridge, Eric A.
Publicado no Hum Mol Genet (2015)

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Por Antonicka, Hana, Østergaard, Elsebet, Sasarman, Florin, Weraarpachai, Woranontee, Wibrand, Flemming, Pedersen, Anne Marie B., Rodenburg, Richard J., van der Knaap, Marjo S., Smeitink, Jan A.M., Chrzanowska-Lightowlers, Zofia M., Shoubridge, Eric A.
Publicado em 2010