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

Por Wouters, Sara, De Meirleir, Linda, Campforts, Edward, Lampo, Annik
Publicado em 2014

Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation

Por Singhi, Pratibha, De Meirleir, Linda, Lissens, Willy, Singhi, Sunit, Saini, Arushi Gahlot
Publicado em 2013

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

Por Staels, Willem, D’Haese, James, Sercu, Els, De Meirleir, Linda, Colpaert, Johan, Cornette, Luc
Publicado no Matern Health Neonatol Perinatol (2015)

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

Por Degelaen, Marc, de Borre, Ludo, Kerckhofs, Eric, de Meirleir, Linda, Buyl, Ronald, Cheron, Guy, Dan, Bernard
Publicado em 2013

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Por Seneca, Sara, Vancampenhout, Kim, Van Coster, Rudy, Smet, Joél, Lissens, Willy, Vanlander, Arnaud, De Paepe, Boel, Jonckheere, An, Stouffs, Katrien, De Meirleir, Linda
Publicado no Eur J Hum Genet (2015)

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

Por 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
Publicado em 2007

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

Por 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
Publicado no PLoS One (2014)

Defining the Pathogenesis of the Human Atp12p W94R Mutation Using a Saccharomyces cerevisiae Yeast Model

Por Meulemans, Ann, Seneca, Sara, Pribyl, Thomas, Smet, Joel, Alderweirldt, Valerie, Waeytens, Anouk, Lissens, Willy, Van Coster, Rudy, De Meirleir, Linda, di Rago, Jean-Paul, Gatti, Domenico L., Ackerman, Sharon H.
Publicado em 2010

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

Por 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
Publicado em 2014

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...

Por 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
Publicado em 2014

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

Por 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
Publicado em 2011

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

Por Méneret, Aurélie, Depienne, Christel, Riant, Florence, Trouillard, Oriane, Bouteiller, Delphine, Cincotta, Massimo, Bitoun, Pierre, Wickert, Julia, Lagroua, Isabelle, Westenberger, Ana, Borgheresi, Alessandra, Doummar, Diane, Romano, Marcello, Rossi, Simone, Defebvre, Luc, De Meirleir, Linda, Espay, Alberto J., Fiori, Simona, Klebe, Stephan, Quélin, Chloé, Rudnik-Schöneborn, Sabine, Plessis, Ghislaine, Dale, Russell C., Sklower Brooks, Susan, Dziezyc, Karolina, Pollak, Pierre, Golmard, Jean-Louis, Vidailhet, Marie, Brice, Alexis, Roze, Emmanuel
Publicado em 2014

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

Por 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
Publicado no Neurology (2016)

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Por Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R.C., Zaki, Maha S., Grainger, Stephanie L., Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H., de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Kibaek, Maria, Aldinger, Kimberley A., Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G.
Publicado no Nat Genet (2017)