Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Por Seneca, Sara, Vancampenhout, Kim, Van Coster, Rudy, Smet, Joél, Lissens, Willy, Vanlander, Arnaud, De Paepe, Boel, Jonckheere, An, Stouffs, Katrien, De Meirleir, Linda
Publicado no Eur J Hum Genet (2015)

A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

Por Vancampenhout, Kim, Caljon, Ben, Spits, Claudia, Stouffs, Katrien, Jonckheere, An, De Meirleir, Linda, Lissens, Willy, Vanlander, Arnaud, Smet, Joél, De Paepe, Boel, Van Coster, Rudy, Seneca, Sara
Publicado no PLoS One (2014)

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

Por Harvengt, Julie, Wanty, Catherine, De Paepe, Boel, Sempoux, Christine, Revencu, Nicole, Smet, Joél, Van Coster, Rudy, Lissens, Willy, Seneca, Sara, Weekers, Laurent, Sokal, Etienne, Debray, François-Guillaume
Publicado no Mol Genet Metab Rep (2014)

A Systems Biology Strategy Reveals Biological Pathways and Plasma Biomarker Candidates for Potentially Toxic Statin-Induced Changes in Muscle

Por Laaksonen, Reijo, Katajamaa, Mikko, Päivä, Hannu, Sysi-Aho, Marko, Saarinen, Lilli, Junni, Päivi, Lütjohann, Dieter, Smet, Joél, Van Coster, Rudy, Seppänen-Laakso, Tuulikki, Lehtimäki, Terho, Soini, Juhani, Orešič, Matej
Publicado em 2006

Defining the Pathogenesis of the Human Atp12p W94R Mutation Using a Saccharomyces cerevisiae Yeast Model

Por Meulemans, Ann, Seneca, Sara, Pribyl, Thomas, Smet, Joel, Alderweirldt, Valerie, Waeytens, Anouk, Lissens, Willy, Van Coster, Rudy, De Meirleir, Linda, di Rago, Jean-Paul, Gatti, Domenico L., Ackerman, Sharon H.
Publicado em 2010

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

Por Morais, Vanessa A, Verstreken, Patrik, Roethig, Anne, Smet, Joél, Snellinx, An, Vanbrabant, Mieke, Haddad, Dominik, Frezza, Christian, Mandemakers, Wim, Vogt-Weisenhorn, Daniela, Van Coster, Rudy, Wurst, Wolfgang, Scorrano, Luca, De Strooper, Bart
Publicado em 2009

No evidence for involvement of <it>SDHD </it>in neuroblastoma pathogenesis

Por Roels Frank, Van Roy Nadine, Combaret Valérie, Laureys Geneviève, Nuyts Annick, Smet Jöel, Vandenbroecke Caroline, Hoebeeck Jasmien, Vandesompele Jo, De Preter Katleen, Van Coster Rudy, Praet Marleen, De Paepe Anne, Speleman Frank
Publicado em 2004-08-01

No evidence for involvement of SDHD in neuroblastoma pathogenesis

Por De Preter, Katleen, Vandesompele, Jo, Hoebeeck, Jasmien, Vandenbroecke, Caroline, Smet, Jöel, Nuyts, Annick, Laureys, Geneviève, Combaret, Valérie, Van Roy, Nadine, Roels, Frank, Van Coster, Rudy, Praet, Marleen, De Paepe, Anne, Speleman, Frank
Publicado em 2004

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

Por Roels, Frank, Verloo, Patrick, Eyskens, François, François, Baudouin, Seneca, Sara, De Paepe, Boel, Martin, Jean-Jacques, Meersschaut, Valerie, Praet, Marleen, Scalais, Emmanuel, Espeel, Marc, Smet, Joél, Van Goethem, Gert, Van Coster, Rudy
Publicado em 2009

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Por Ahting, Uwe, Mayr, Johannes A., Vanlander, Arnaud V., Hardy, Steven A., Santra, Saikat, Makowski, Christine, Alston, Charlotte L., Zimmermann, Franz A., Abela, Lucia, Plecko, Barbara, Rohrbach, Marianne, Spranger, Stephanie, Seneca, Sara, Rolinski, Boris, Hagendorff, Angela, Hempel, Maja, Sperl, Wolfgang, Meitinger, Thomas, Smet, Joél, Taylor, Robert W., Van Coster, Rudy, Freisinger, Peter, Prokisch, Holger, Haack, Tobias B.
Publicado no Front Genet (2015)

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Por Alston, Charlotte L., Compton, Alison G., Formosa, Luke E., Strecker, Valentina, Oláhová, Monika, Haack, Tobias B., Smet, Joél, Stouffs, Katrien, Diakumis, Peter, Ciara, Elżbieta, Cassiman, David, Romain, Nadine, Yarham, John W., He, Langping, De Paepe, Boel, Vanlander, Arnaud V., Seneca, Sara, Feichtinger, René G., Płoski, Rafal, Rokicki, Dariusz, Pronicka, Ewa, Haller, Ronald G., Van Hove, Johan L.K., Bahlo, Melanie, Mayr, Johannes A., Van Coster, Rudy, Prokisch, Holger, Wittig, Ilka, Ryan, Michael T., Thorburn, David R., Taylor, Robert W.
Publicado no Am J Hum Genet (2016)

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Por Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger
Publicado no Am J Hum Genet (2014)