Onderzoeker
Linda De Meirleir
- Trefwoorden:Geneeskunde
Affiliaties
- Pediatrie (kind) (Departement)
Lid
Vanaf1 feb 2016 → 15 okt 2018 - Observerende Klinische wetenschappen (Departement)
Lid
Vanaf1 jan 2014 → 31 okt 2018 - Neurogenetica (Onderzoeksgroep)
Verantwoordelijke
Vanaf29 jun 2011 → 31 okt 2018 - Reproductie en Genetica (Onderzoeksgroep)
Lid
Vanaf21 jun 2010 → 31 okt 2018 - Pediatrie (kind) (Departement)
Lid
Vanaf1 jan 2008 → 31 okt 2018 - Pediatrie (Departement)
Lid
Vanaf1 feb 1997 → 31 dec 2013
Projecten
1 - 1 of 1
- 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 (incl. WEAVE projecten)
Publicaties
21 - 30 van 63
- How robust is ACTIVLIM for the follow-up of activity limitations in patients with neuromuscular diseases?(2016)
Auteurs: Charles Sèbiyo Batcho, Peter Y K Van den Bergh, Philip Van Damme, Anna J Roy, Jean-Louis Thonnard, Massimo Penta, Linda De Meirleir
Pagina's: 211-220 - Impact of age at onset and newborn screening on outcome in organic acidurias(2016)
Auteurs: Jana Heringer, Vassili Valayannopoulos, Allan Meldgaard Lund, Frits A Wijburg, Peter Freisinger, Ivo Barić, Matthias R Baumgartner, Peter Burgard, Alberto B Burlina, Kimberly A Chapman, et al.
Pagina's: 341-353 - Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation(2016)
Auteurs: Peter Witters, Luc Régal, Hans R Waterham, Linda De Meirleir, Ronald J A Wanders, Eva Morava
Pagina's: 1642-1646 - The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2(2015)
Auteurs: Stefan Kölker, Vassili Valayannopoulos, Alberto B Burlina, Jolanta Sykut-Cegielska, Frits A Wijburg, Elisa Leão Teles, Jirí Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, et al.
Pagina's: 1059-1074 - The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1(2015)
Auteurs: Stefan Kölker, Angeles Garcia-Cazorla, Vassili Valayannopoulos, Allan Meldgaard Lund, Alberto B Burlina, Jolanta Sykut-Cegielska, Frits A Wijburg, Elisa Leão Teles, Jirí Zeman, Carlo Dionisi-Vici, et al.
Pagina's: 1041-1057 - Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data(2015)
Auteurs: M. Huemer, C Bürer, Pavel Ješina, V Kožich, M A Landolt, T Suormala, B. Fowler, P Augoustides-Savvopoulou, E Blair, K Brennerova, et al.
Pagina's: 957-967 - Phenotypic plasticity and the perception-action-cognition-environment paradigm in neurodevelopmental genetic disorders(2015)
Auteurs: Bernard Dan, Karine Pelc, Linda De Meirleir, Guy Cheron
Pagina's: 52-54 - Eyes on MEGDEL(2015)
Auteurs: Saskia B Wortmann, Peter M van Hasselt, Ivo Barić, Alberto Burlina, Niklas Darin, Friederike Hörster, Mahmut Coker, Sema Kalkan Ucar, Zita Krumina, Karin Naess, et al.
Pagina's: 98-103 - Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)(2015)
Auteurs: Arnaud V Vanlander, Björn Menten, Joél Smet, Linda De Meirleir, Tom Sante, Boel De Paepe, Sara Seneca, Sarah F Pearce, Christopher A Powell, Sarah Vergult, et al.
Pagina's: 222-231 - ALG11-CDG(2015)
Auteurs: Luc Régal, Peter M van Hasselt, F Foulquier, I Cuppen, Hcmt Prinsen, K Jansen, L Keldermans, Linda De Meirleir, G. Matthijs, J. Jaeken
Pagina's: 16-19