Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis

por Ng, Kah Ying, Richter, Uwe, Jackson, Christopher B, Seneca, Sara, Battersby, Brendan J
Publicado 2021

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

por Stouffs, Katrien, Gheldof, Alexander, Tournaye, Herman, Vandermaelen, Deborah, Bonduelle, Maryse, Lissens, Willy, Seneca, Sara
Publicado 2016

EDIR: exome database of interspersed repeats

por Vo Ngoc, Laura D T, Osei, Randy, Dohr, Katrin, Olsen, Catharina, Seneca, Sara, Gheldof, Alexander
Publicado 2022

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene

por de Filette, Jeroen, Hasaerts, Danielle, Seneca, Sara, Gheldof, Alexander, Stouffs, Katrien, Keymolen, Kathelijn, Velkeniers, Brigitte
Publicado 2016

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

por Losekoot, Monique, van Belzen, Martine J, Seneca, Sara, Bauer, Peter, Stenhouse, Susan A R, Barton, David E
Publicado 2013

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

por Papadimas, George K., Vargiami, Efthimia, Dragoumi, Pinelopi, Van Coster, Rudy, Smet, Joel, Seneca, Sara, Papadopoulos, Constantinos, Kararizou, Evangelia, Zafeiriou, Dimitrios
Publicado 2020

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset

por Capiau, Sara, Smet, Joél, De Paepe, Boel, Yildiz, Yilmaz, Arslan, Mutluay, Stevens, Olivier, Verschoore, Maxime, Stepman, Hedwig, Seneca, Sara, Vanlander, Arnaud
Publicado 2022

Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT

por Hemelsoet, Dimitri M., Vanlander, Arnaud V., Smet, Joél, Vantroys, Elise, Acou, Marjan, Goethals, Ingeborg, Sante, Tom, Seneca, Sara, Menten, Bjorn, Van Coster, Rudy
Publicado 2018

Clinical implementation of gene panel testing for lysosomal storage diseases

por Gheldof, Alexander, Seneca, Sara, Stouffs, Katrien, Lissens, Willy, Jansen, Anna, Laeremans, Hilde, Verloo, Patrick, Schoonjans, An‐Sofie, Meuwissen, Marije, Barca, Diana, Martens, Geert, De Meirleir, Linda
Publicado 2018

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 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 2014

Random Mutagenesis, Clonal Events, and Embryonic or Somatic Origin Determine the mtDNA Variant Type and Load in Human Pluripotent Stem Cells

por Zambelli, Filippo, Mertens, Joke, Dziedzicka, Dominika, Sterckx, Johan, Markouli, Christina, Keller, Alexander, Tropel, Philippe, Jung, Laura, Viville, Stephane, Van de Velde, Hilde, Geens, Mieke, Seneca, Sara, Sermon, Karen, Spits, Claudia
Publicado 2018

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 2009

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synt...

por Čížková, Alena, Stránecký, Viktor, Ivánek, Robert, Hartmannová, Hana, Nosková, Lenka, Piherová, Lenka, Tesařová, Markéta, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Divina, Petr, Potocká, Andrea, Paul, Jan, Sperl, Wolfgang, Mayr, Johannes A, Seneca, Sara, Houštĕk, Josef, Kmoch, Stanislav
Publicado 2008

New insights into the phenotype of FARS2 deficiency

por Vantroys, Elise, Larson, Austin, Friederich, Marisa, Knight, Kaz, Swanson, Michael A., Powell, Christopher A., Smet, Joél, Vergult, Sarah, De Paepe, Boel, Seneca, Sara, Roeyers, Herbert, Menten, Björn, Minczuk, Michal, Vanlander, Arnaud, Van Hove, Johan, Van Coster, Rudy
Publicado 2017

Mitochondrial stress response triggered by defects in protein synthesis quality control

por Richter, Uwe, Ng, Kah Ying, Suomi, Fumi, Marttinen, Paula, Turunen, Taina, Jackson, Christopher, Suomalainen, Anu, Vihinen, Helena, Jokitalo, Eija, Nyman, Tuula A, Isokallio, Marita A, Stewart, James B, Mancini, Cecilia, Brusco, Alfredo, Seneca, Sara, Lombès, Anne, Taylor, Robert W, Battersby, Brendan J
Publicado 2019

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

por Lantoine, Joséphine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valérie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van Den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Françoise, Ravoet, Marie, Fastré, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique
Publicado 2021

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

por Barbé, Lise, Lanni, Stella, López-Castel, Arturo, Franck, Silvie, Spits, Claudia, Keymolen, Kathelijn, Seneca, Sara, Tomé, Stephanie, Miron, Ioana, Letourneau, Julie, Liang, Minggao, Choufani, Sanaa, Weksberg, Rosanna, Wilson, Michael D., Sedlacek, Zdenek, Gagnon, Cynthia, Musova, Zuzana, Chitayat, David, Shannon, Patrick, Mathieu, Jean, Sermon, Karen, Pearson, Christopher E.
Publicado 2017

Lactic Acidosis in a Newborn With Adrenal Calcifications

por Zecic, Alexandra, Smet, Joél E, Praeter, Claudine M De, Vanhaesebrouck, Piet, Viscomi, Carlo, Broecke, Caroline Van Den, Paepe, Boel De, Lohse, Peter, Martin, Jean-Jacques, Jackson, Joshua G, Campbell, Colin R, Meirleir, Linda J De, Zeviani, Massimo, Seneca, Sara H, Lissens, Willy, Coster, Rudy N Van
Publicado 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 2015