Does superoxide anion participate in 2-oxoglutarate-dependent hydroxylation?

Por Holme, Elisabeth, Lindstedt, Göran, Lindstedt, Sven, Nordin, Ingalill
Publicado em 1982

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Por Cassiman, David, Zeevaert, Renate, Holme, Elisabeth, Kvittingen, Eli-Anne, Jaeken, Jaak
Publicado em 2009

Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection?

Por Houshmand, Massoud, Holme, Elisabeth, Hanson, Charles, Wennerholm, Ulla-Britt, Hamberger, Lars
Publicado em 1997

Deoxyribonucleotide Metabolism in Cycling and Resting Human Fibroblasts with a Missense Mutation in p53R2, a Subunit of Ribonucleotide Reductase

Por Pontarin, Giovanna, Ferraro, Paola, Rampazzo, Chiara, Kollberg, Gittan, Holme, Elisabeth, Reichard, Peter, Bianchi, Vera
Publicado em 2011

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy

Por Roos, Sara, Darin, Niklas, Kollberg, Gittan, Andersson Grönlund, Marita, Tulinius, Mar, Holme, Elisabeth, Moslemi, Ali-Reza, Oldfors, Anders
Publicado em 2013

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

Por Sofou, Kalliopi, Kollberg, Gittan, Holmström, Maria, Dávila, Marcela, Darin, Niklas, Gustafsson, Claes M, Holme, Elisabeth, Oldfors, Anders, Tulinius, Már, Asin-Cayuela, Jorge
Publicado no Mol Genet Genomic Med (2015)

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon...

Por Szuhai, Károly, Ouweland, Jody M. van den, Dirks, Roeland W., Lemaître, Marc, Truffert, Jean-Christophe, Janssen, George M., Tanke, Hans J., Holme, Elisabeth, Maassen, J. Antonie, Raap, Anton K.
Publicado em 2001

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Por Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Publicado em 2009