Researcher
Linda De Meirleir
- Keywords:Medicine
Affiliations
- Pediatrics (Department)
Member
From1 Feb 2016 → 15 Oct 2018 - Clinical sciences (Department)
Member
From1 Jan 2014 → 31 Oct 2018 - Neurogenetics (Research group)
Responsible
From29 Jun 2011 → 31 Oct 2018 - Reproduction and Genetics (Research group)
Member
From21 Jun 2010 → 31 Oct 2018 - Pediatrics (Department)
Member
From1 Jan 2008 → 31 Oct 2018 - Pediatrics (Department)
Member
From1 Feb 1997 → 31 Dec 2013
Projects
1 - 1 of 1
- Development of diagnostic, biochemical and molecular methods, the prevention and the study of treatment of OXPHOS deficiency.From1 Jan 2010 → 31 Dec 2013Funding: FWO research project (including WEAVE projects)
Publications
11 - 20 of 63
- Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency(2018)
Authors: 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.
Pages: 120-120 - Phenotype-genotype correlations in Leigh syndrome(2018)
Authors: 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.
Pages: 21-27 - Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions(2018)
Authors: Linda De Meirleir
Pages: 110-110 - Progressive deafness-dystonia due to SERAC1 mutations - a study of 67 cases(2017)
Authors: 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.
Pages: 1004-1015 - X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid(2017)
Authors: Emmanuel Scalais, Elise Osterheld, Christiane Weitzel, Linda De Meirleir, Frederic Mataigne, Geert Martens, Tamim H Shaikh, Curtis R Coughlin, Hung-Chun Yu, Michael Swanson, et al.
Pages: 65-69 - Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing(2017)
Authors: 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.
Pages: 457-464 - PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure(2016)
Authors: Renate Zeevaert, Emmanuel Scalais, Laura Muiño Mosquera, Linda De Meirleir, Carine de Beaufort, Michael Witsch, Jaak Jaeken, Jean De Schepper
Pages: 435-437 - Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype(2016)
Authors: Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem, Linda De Meirleir
Pages: 1799-1805 - Effect of supporting 3D-garment on gait postural stability in children with bilateral spastic cerebral palsy(2016)
Authors: M Degelaen, Ludo De Borre, Ronald Buyl, Eric Kerckhofs, Linda De Meirleir, Bernard Dan
Pages: 175-181 - Delineating the GRIN1 phenotypic spectrum(2016)
Authors: 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.
Pages: 2171-2178