A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

Por Ogilvie, Isla, Kennaway, Nancy G., Shoubridge, Eric A.
Publicado em 2005

Mitochondrial Encephalomyopathy and Complex III Deficiency Associated with a Stop-Codon Mutation in the Cytochrome b Gene

Por Keightley, J. Andrew, Anitori, Roberto, Burton, Miriam D., Quan, Franklin, Buist, Neil R. M., Kennaway, Nancy G.
Publicado em 2000

Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy

Por Antonicka, Hana, Mattman, Andre, Carlson, Christopher G., Glerum, D. Moira, Hoffbuhr, Kristen C., Leary, Scot C., Kennaway, Nancy G., Shoubridge, Eric A.
Publicado em 2003

Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Por Tuppen, Helen AL, Naess, Karin, Kennaway, Nancy G, Al-Dosary, Mazhor, Lesko, Nicole, Yarham, John W, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, Weleber, Richard G, Blakely, Emma L, Taylor, Robert W, McFarland, Robert
Publicado em 2012

Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

Por Tuppen, Helen AL, Naess, Karin, Kennaway, Nancy G, Al-Dosary, Mazhor, Lesko, Nicole, Yarham, John W, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, Weleber, Richard G, Blakely, Emma L, Taylor, Robert W, McFarland, Robert
Publicado em 2012