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
11 - 20 van 63
- Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency(2018)
Auteurs: Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, Manuel Schiff, Tobias B Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B Catarino, Daria Diodato, et al.
Pagina's: 120-120 - Phenotype-genotype correlations in Leigh syndrome(2018)
Auteurs: Kalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Tuula Lönnqvist, Laurence Albert Bindoff, et al.
Pagina's: 21-27 - Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions(2018)
Auteurs: Linda De Meirleir
Pagina's: 110-110 - Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases(2017)
Auteurs: Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, et al.
Pagina's: 1004-1015 - X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid(2017)
Auteurs: Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Geert A Martens, Tamim H Shaikh, Curtis R Coughlin, Hung-Chun Yu, Michael Swanson, et al.
Pagina's: 65-69 - Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing(2017)
Auteurs: Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Shashank Sathe, Eric L Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, et al.
Pagina's: 457-464 - PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure(2016)
Auteurs: Renate Zeevaert, Emmanuel Scalais, Laura Muiño Mosquera, Linda De Meirleir, Carine de Beaufort, Michael Witsch, Jaak Jaeken, Jean De Schepper
Pagina's: 435-437 - Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype(2016)
Auteurs: Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem, Linda De Meirleir
Pagina's: 1799-1805 - Effect of supporting 3D-garment on gait postural stability in children with bilateral spastic cerebral palsy(2016)
Auteurs: M Degelaen, Ludo De Borre, Ronald Buyl, Eric Kerckhofs, Linda De Meirleir, Bernard Dan
Pagina's: 175-181 - Delineating the GRIN1 phenotypic spectrum(2016)
Auteurs: Johannes R Lemke, Kirsten Geider, Katherine L Helbig, Henrike O Heyne, Hannah Schütz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine Heron, et al.
Pagina's: 2171-2178