Onderzoeker
Rudy Van Coster
- Disciplines:Endocrinologie en metabole ziekten, Pediatrie en neonatologie, Verpleegkunde
Affiliaties
- Vakgroep Inwendige ziekten en Pediatrie (Departement)
Lid
Vanaf1 okt 2018 → 30 sep 2020 - Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf1 okt 1996 → 30 sep 2018
Projecten
1 - 2 of 2
- Op weg naar een haalbare diagnose- en behandelingsstrategie voor mitochondriale aandoeningen via onderzoek op menselijke embryo's en pluripotente stamcellenVanaf1 jan 2017 → 31 dec 2020Financiering: FWO Onderzoeksproject
- Ontwikkeling van diagnostische, biochemische en moleculaire methoden, de preventie en de studie van behandelingsmogelijkheden bij OXPHOS deficiëntiesVanaf1 jan 2010 → 31 dec 2015Financiering: FWO Onderzoeksproject
Publicaties
1 - 10 van 109
- Research activity and capability in the European reference network MetabERN(2019)
Auteurs: Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa, the MetabERN collaboration group, Rudy Van Coster
- Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3(2018)
Auteurs: A Schänzer, S Rupp, S Gräf, D Zengeler, C Jux, H Akintürk, L Gulatz, N Mazhari, T Acker, Rudy Van Coster, et al.
Pagina's: 388 - 399 - Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)
Auteurs: Markus Wolff, Katrine M Johannesen, Ulrike BS Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, et al.
Pagina's: 1316 - 1336 - Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: report on nine patients(2016)
Auteurs: Joseph P Dewulf, Catherine Barrea, Marie-Françoise Vincent, Corinne De Laet, Rudy Van Coster, Sara Seneca, Sandrine Marie, Marie-Cécile Nassogne
Pagina's: 185 - 189 - ALG1-CDG: clinical and molecular characterization of 39 unreported patients(2016)
Auteurs: Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Martin Kircher, Jose E Abdenur, Fusun Alehan, Alina T Midro, Michael J Bamshad, et al.
Pagina's: 653 - 660 - Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin(2015)
Auteurs: Bethany L Johnson-Kerner, Faizzan S Ahmad, Alejandro Garcia Diaz, John Palmer Greene, Steven J Gray, Richard Jude Samulski, Wendy K Chung, Rudy Van Coster, Paul Maertens, Scott A Noggle, et al.
Pagina's: 1420 - 1431 - Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)
Auteurs: YJ Crow, DS Chase, JL Schmidt, M Szynkiewicz, GMA Forte, HL Gornall, A Oojageer, B Anderson, A Pizzino, G Helman, et al.
Pagina's: 296 - 312 - Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients(2013)
Auteurs: Sarah Weckhuysen, Vanja Ivanovic, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S Møller, Sabine Grønborg, An-Sofie Schoonjans, Berten Ceulemans, Sinead B Heavin, et al.
Pagina's: 1697 - 1703 - A de novo mutation in the U+03B2-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum(2013)
Auteurs: Cas Simons, Nicole I Wolf, Nathan McNeil, Ljubica Caldovic, Joseph M Devaney, Asako Takanohashi, Joanna Crawford, Kelin Ru, Sean M Grimmond, David Miller, et al.
Pagina's: 767 - 773 - Acetazolamide for severe apnea in Pitt-Hopkins syndrome(2012)
Auteurs: Stijn L Verhulst, J De Dooy, J Ramet, N Bockaert, Rudy Van Coster, B Ceulemans, W De Backer
Pagina's: 932 - 934