COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux

por Leary, Scot C., Cobine, Paul A., Nishimura, Tamiko, Verdijk, Robert M., de Krijger, Ronald, de Coo, René, Tarnopolsky, Mark A., Winge, Dennis R., Shoubridge, Eric A.
Publicado 2013

The impact of gender, puberty, and pregnancy in patients with POLG disease

por Hikmat, Omar, Naess, Karin, Engvall, Martin, Klingenberg, Claus, Rasmussen, Magnhild, Tallaksen, Chantal M. E., Samsonsen, Christian, Brodtkorb, Eylert, Ostergaard, Elsebet, de Coo, Rene, Pias‐Peleteiro, Leticia, Isohanni, Pirjo, Uusimaa, Johanna, Darin, Niklas, Rahman, Shamima, Bindoff, Laurence A.
Publicado 2020

Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A>G Cybrid Cells

por Raap, Anton K., Jahangir Tafrechi, Roshan S., van de Rijke, Frans M., Pyle, Angela, Wählby, Carolina, Szuhai, Karoly, Ravelli, Raimond B. G., de Coo, René F. M., Rajasimha, Harsha K., Nilsson, Mats, Chinnery, Patrick F., Samuels, David C., Janssen, George M. C.
Publicado 2012

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

por Veldman, Abigail, Kiewiet, M. B. Gea, Westra, Dineke, Bosch, Annet M., Brands, Marion M. G., de Coo, René I. F. M., Derks, Terry G. J., Fuchs, Sabine A., van den Hout, Johanna. M. P., Huidekoper, Hidde H., Kluijtmans, Leo A. J., Koop, Klaas, Lubout, Charlotte M. A., Mulder, Margaretha F., Panis, Bianca, Rubio-Gozalbo, M. Estela, de Sain-van der Velden, Monique G., Schaefers, Jaqueline, Schreuder, Andrea B., Visser, Gepke, Wevers, Ron A., Wijburg, Frits A., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Publicado 2023