Items where Author is "Antonicka, Hana"

Article

Antonicka, Hana and Weraarpachai, Woranontee and Szigety, Katherine M. and Kopajtich, Robert and Gibson, James B. and Hove, Johan L. K. Van and Friederich, Marisa W. and Lopriore, Piervito and Neuhofer, Christiane and Hove, Roxanne A. Van and Cole, Michel A. and Reisdorph, Richard and Peterson, James T. and Dempsey, Katherine J. and Ganetzky, Rebecca D. and Mancuso, Michelangelo and Prokisch, Holger and Shoubridge, Eric A. (2025) Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early-to late-onset Leigh syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 112 (7). pp. 1699-1710. ISSN 0002-9297, 1537-6605