A self‐portrait: Design opportunities for a tool that supports children's involvement in brain‐related health care
Meulendijks, Paul, Haren, Neeltje E. M., Gielen, Mathieu A., Veelen‐Vincent, Marie‐Lise C.
Published in Health expectations : an international journal of public participation in health care and health policy (01.10.2022)
Published in Health expectations : an international journal of public participation in health care and health policy (01.10.2022)
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Perioperative risk factors for long‐term intelligence in children with postoperative cerebellar mutism syndrome after medulloblastoma surgery
Aarsen, Femke K., Veelen‐Vincent, Marie‐Lise C., Partanen, Marita, Catsman‐Berrevoets, Coriene E.
Published in Pediatric blood & cancer (01.03.2022)
Published in Pediatric blood & cancer (01.03.2022)
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A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair
Rzem, Rim, Achouri, Younes, Marbaix, Etienne, Schakman, Olivier, Wiame, Elsa, Marie, Sandrine, Gailly, Philippe, Vincent, Marie-Françoise, Veiga-da-Cunha, Maria, Van Schaftingen, Emile
Published in PloS one (12.03.2015)
Published in PloS one (12.03.2015)
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SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation
Dewulf, Joseph P., Wiame, Elsa, Dorboz, Imen, Elmaleh‐Bergès, Monique, Imbard, Apolline, Dumitriu, Dana, Rak, Malgorzata, Bourillon, Agnès, Helaers, Raphaël, Malla, Alisha, Renaldo, Florence, Boespflug‐Tanguy, Odile, Vincent, Marie‐Françoise, Benoist, Jean‐François, Wevers, Ron A., Schlessinger, Avner, Van Schaftingen, Emile, Nassogne, Marie‐Cécile, Schiff, Manuel
Published in Annals of neurology (01.03.2019)
Published in Annals of neurology (01.03.2019)
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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
Cluzeau, Céline, Hadj-Rabia, Smail, Jambou, Marguerite, Mansour, Sourour, Guigue, Philippe, Masmoudi, Sahben, Bal, Elodie, Chassaing, Nicolas, Vincent, Marie-Claire, Viot, Géraldine, Clauss, François, Manière, Marie-Cécile, Toupenay, Steve, Le Merrer, Martine, Lyonnet, Stanislas, Cormier-Daire, Valérie, Amiel, Jeanne, Faivre, Laurence, de Prost, Yves, Munnich, Arnold, Bonnefont, Jean-Paul, Bodemer, Christine, Smahi, Asma
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case
Ramond, Francis, Rio, Marlène, Héron, Bénédicte, Imbard, Apolline, Marie, Sandrine, Billiemaz, Kareen, Denommé‐Pichon, Anne‐Sophie, Kuentz, Paul, Ceballos, Irène, Piraud, Monique, Vincent, Marie‐Françoise, Touraine, Renaud
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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VAMP3 and VAMP8 Regulate the Development and Functionality of Parasitophorous Vacuoles Housing Leishmania amazonensis
Séguin, Olivier, Mai, Linh Thuy, Acevedo Ospina, Hamlet, Guay-Vincent, Marie-Michèle, Whiteheart, Sidney W, Stäger, Simona, Descoteaux, Albert
Published in Infection and immunity (17.03.2022)
Published in Infection and immunity (17.03.2022)
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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
Benkirane, Mehdi, Da Cunha, Dylan, Marelli, Cecilia, Larrieu, Lise, Renaud, Mathilde, Varilh, Jessica, Pointaux, Morgane, Baux, David, Ardouin, Olivier, Vangoethem, Charles, Taulan, Magali, Daumas Duport, Benjamin, Bergougnoux, Anne, Corbillé, Anne-Gaelle, Cossée, Mireille, Juntas Morales, Raul, Tuffery-Giraud, Sylvie, Koenig, Michel, Isidor, Bertrand, Vincent, Marie-Claire
Published in Brain (London, England : 1878) (21.11.2022)
Published in Brain (London, England : 1878) (21.11.2022)
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Process and implementation of participatory ergonomic interventions: a systematic review
van Eerd, Dwayne, Cole, Donald, Irvin, Emma, Mahood, Quenby, Keown, Kiera, Theberge, Nancy, Village, Judy, St. Vincent, Marie, Cullen, Kim
Published in Ergonomics (01.10.2010)
Published in Ergonomics (01.10.2010)
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Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression
Janssens, Virginie, Gaide Chevronnay, Héloïse P, Marie, Sandrine, Vincent, Marie-Françoise, Van Der Smissen, Patrick, Nevo, Nathalie, Vainio, Seppo, Nielsen, Rikke, Christensen, Erik I, Jouret, François, Antignac, Corinne, Pierreux, Christophe E, Courtoy, Pierre J
Published in Journal of the American Society of Nephrology (01.11.2019)
Published in Journal of the American Society of Nephrology (01.11.2019)
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A Case of Complete Resolution of Cauda Equina Syndrome Caused by Extensive Iliocaval Thrombosis: The Role of Thrombolysis and Venous Stents
Bakas, Jay M., Bijdevaate, Diederik C., Lauw, Mandy N., van Veelen-Vincent, Marie-Lise C., van Rijn, Marie Josee E.
Published in Journal of endovascular therapy (07.06.2023)
Published in Journal of endovascular therapy (07.06.2023)
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Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders
Vincent, Marie, Karolak, Justyna A, Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł
Published in American journal of respiratory and critical care medicine (01.11.2019)
Published in American journal of respiratory and critical care medicine (01.11.2019)
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Very long-term sequelae of craniopharyngioma
Wijnen, Mark, van den Heuvel-Eibrink, Marry M, Janssen, Joseph A M J L, Catsman-Berrevoets, Coriene E, Michiels, Erna M C, van Veelen-Vincent, Marie-Lise C, Dallenga, Alof H G, van den Berge, J Herbert, van Rij, Carolien M, van der Lely, Aart-Jan, Neggers, Sebastian J C M M
Published in European journal of endocrinology (01.06.2017)
Published in European journal of endocrinology (01.06.2017)
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Oral administration of viable Bifidobacterium pseudolongum strain Patronus modified colonic microbiota and increased mucus layer thickness in rat
Mangin, Irène, Dossou-Yovo, Flore, Lévêque, Christophe, Dessoy, Marie-Vincent, Sawoo, Olivier, Suau, Antonia, Pochart, Philippe
Published in FEMS microbiology ecology (01.11.2018)
Published in FEMS microbiology ecology (01.11.2018)
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Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder
Demaret, Tanguy, Roumain, Martin, Ambroise, Jérôme, Evraerts, Jonathan, Ravau, Joachim, Bouzin, Caroline, Bearzatto, Bertrand, Gala, Jean-Luc, Stepman, Hedwig, Marie, Sandrine, Vincent, Marie-Françoise, Muccioli, Giulio G., Najimi, Mustapha, Sokal, Etienne M.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.11.2020)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.11.2020)
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Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure
Oussoren, Esmee, Mathijssen, Irene M. J., Wagenmakers, Margreet, Verdijk, Rob M., Bredero-Boelhouwer, Hansje H., van Veelen-Vincent, Marie-Lise C., van der Meijden, Jan C., van den Hout, Johanna M. P., Ruijter, George J. G., van der Ploeg, Ans T., Langeveld, Mirjam
Published in Journal of inherited metabolic disease (01.12.2018)
Published in Journal of inherited metabolic disease (01.12.2018)
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