Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease

by Wouters, Sara, De Meirleir, Linda, Campforts, Edward, Lampo, Annik
Published 2014

Influence of Botulinum Toxin Therapy on Postural Control and Lower Limb Intersegmental Coordination in Children with Spastic Cerebral Palsy

by Degelaen, Marc, de Borre, Ludo, Kerckhofs, Eric, de Meirleir, Linda, Buyl, Ronald, Cheron, Guy, Dan, Bernard
Published 2013

Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage

by Staels, Willem, D’Haese, James, Sercu, Els, De Meirleir, Linda, Colpaert, Johan, Cornette, Luc
Published 2015

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

by Wraith, J. Edmond, Scarpa, Maurizio, Beck, Michael, Bodamer, Olaf A., De Meirleir, Linda, Guffon, Nathalie, Meldgaard Lund, Allan, Malm, Gunilla, Van der Ploeg, Ans T., Zeman, Jiri
Published 2007

A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

by Vancampenhout, Kim, Caljon, Ben, Spits, Claudia, Stouffs, Katrien, Jonckheere, An, De Meirleir, Linda, Lissens, Willy, Vanlander, Arnaud, Smet, Joél, De Paepe, Boel, Van Coster, Rudy, Seneca, Sara
Published 2014

A multicenter study on Leigh syndrome: disease course and predictors of survival

by Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A, Tulinius, Már, Darin, Niklas
Published 2014

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

by Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Leão Teles, Elisa, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E
Published 2011

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential no...

by Kalko, Susana Graciela, Paco, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidre, Roig-Quilis, Manel, Munell, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch, Rafael, Montero, Raquel, Torner, Ferran, Nascimento, Andres, Ortez, Carlos, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Published 2014

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

by Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Published 2016