Onderzoeker
Sara Seneca
- Trefwoorden:Geneeskunde
- Disciplines:Genetica, Moleculaire diagnostiek, Metabole ziekten, Medische metabolomics, Energiemetabolisme, Biogerontologie, Celfysiologie
Affiliaties
- Observerende Klinische wetenschappen (Departement)
Lid
Vanaf1 jan 2014 → Heden - Medische genetica (Departement)
Lid
Vanaf1 jan 2014 → Heden - Reproductie en Genetica (Onderzoeksgroep)
Lid
Vanaf1 mrt 2010 → Heden - Embryologie en Menselijke Genetica (Departement)
Lid
Vanaf1 jan 2002 → 31 dec 2013 - Microbiologie (Onderzoeksgroep)
Lid
Vanaf1 jul 1992 → 31 aug 1992
Projecten
1 - 2 of 2 results
- Ontwikkeling van diagnostische, biochemische en moleculaire methoden, de preventie en de studie van behandelingsmogelijkheden bij OXPHOS deficiënties.Vanaf1 jan 2010 → 31 dec 2013Financiering: FWO Onderzoeksproject
- Research at the interface between human genetics and reproduction.Vanaf1 jan 2009 → HedenFinanciering: Methusalem
Publicaties
1 - 10 of 92 results
- Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene(2020)
Auteurs: George K Papadimas, Efthimia Vargiami, Pinelopi Dragoumi, Rudy Van Coster, Joel Smet, Sara Seneca, Constantinos Papadopoulos, Evangelia Kararizou, Dimitrios Zafeiriou
Pagina's: 94-97Aantal pagina's: 4 - "Idiopathic" pulmonary arterial hypertension in early infancy(2019)
Auteurs: Paquay Stéphanie, Barrea Catherine, Sluysmans Thierry, Vachiery Jean-Luc, Loeckx Isabelle, Sara Seneca, Vô Christophe, Nassogne Marie-Cécile
Pagina's: 325-328Aantal pagina's: 4 - Rare genetic variants potentially involved in ovarian hyperstimulation syndrome(2019)
Auteurs: Katrien Stouffs, Sari Daelemans, Samuel Dos Santos Ribeiro, Sara Seneca, Alexander Gheldof, Michel De Vos, H Tournaye, Christophe Blockeel
Pagina's: 491-497Aantal pagina's: 7 - Mitochondrial stress response triggered by defects in protein synthesis quality control(2019)
Auteurs: Uwe Richter, Kah Ying Ng, Fumi Suomi, Paula Marttinen, Taina Turunen, Christopher Jackson, Anu Suomalainen, Helena Vihinen, Eija Jokitalo, Tuula A Nyman, et al.
Aantal pagina's: 17 - Clinical implementation of gene panel testing for lysosomal storage diseases(2019)
Auteurs: Alexander Gheldof, Sara Seneca, Katrien Stouffs, Willy Lissens, Anna Jansen, Geert A Martens, Linda De Meirleir
Aantal pagina's: 11 - Clinical implementation of gene panel testing for lysosomal storage diseases(2019)
Auteurs: Alexander Gheldof, Sara Seneca, Katrien Stouffs, Willy Lissens, Anna C Jansen, Patrick Verloo, An-Sofie Schoonjans, Marije Meuwissen, Diana Barca, Geert A Martens, et al.
- Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations(2018)
Auteurs: Katrien Stouffs, Tim Vanderhasselt, Laura Vandervore, Kathelijn Keymolen, Sara Seneca, Alexander Gheldof, Linda De Meirleir, Anna Jansen
Pagina's: 733-737Aantal pagina's: 5 - Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT(2018)
Auteurs: Elise Vantroys, Sara Seneca
Aantal pagina's: 6 - Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT(2018)
Auteurs: Sara Seneca
Aantal pagina's: 7 - Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells(2018)
Auteurs: Sumitava Dastidar, Kshitiz Singh, Debanjana Majumdar, Nisha Nair Dastidar, Ermira Samara, Jaitip Tipanee, Sara Seneca, Warut Tulalamba, Hui Wang, Yoke Chin Chai, et al.
Pagina's: 8275-8298Aantal pagina's: 24