Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

Tekijä Overwater, Iris E, Rietman, André B, van Eeghen, Agnies M, de Wit, Marie Claire Y
Julkaisussa Ther Clin Risk Manag (2019)

Diagnosis of Guillain–Barré syndrome in children and validation of the Brighton criteria

Tekijä Roodbol, Joyce, de Wit, Marie-Claire Y., van den Berg, Bianca, Kahlmann, Vivienne, Drenthen, Judith, Catsman-Berrevoets, Coriene E., Jacobs, Bart C.
Julkaisussa J Neurol (2017)

Combined cardiological and neurological abnormalities due to filamin A gene mutation

Tekijä de Wit, Marie Claire Y., de Coo, Irenaeus F. M., Lequin, Maarten H., Halley, Dicky J. J., Roos-Hesselink, Jolien W., Mancini, Grazia M. S.
Julkaistu 2010

Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study

Tekijä Mous, Sabine E., Overwater, Iris E., Vidal Gato, Rita, Duvekot, Jorieke, ten Hoopen, Leontine W., Lequin, Maarten H., de Wit, Marie-Claire Y., Dieleman, Gwendolyn C.
Julkaisussa Eur Child Adolesc Psychiatry (2017)

Human RAD50 deficiency: Confirmation of a distinctive phenotype

Tekijä Ragamin, Aviël, Yigit, Gökhan, Bousset, Kristine, Beleggia, Filippo, Verheijen, Frans W., de Wit, Marie‐Claire Y., Strom, Tim M., Dörk, Thilo, Wollnik, Bernd, Mancini, Grazia M. S.
Julkaisussa Am J Med Genet A (2020)

Motor problems in children with neurofibromatosis type 1

Tekijä Rietman, André B., Oostenbrink, Rianne, Bongers, Sanne, Gaukema, Eddy, van Abeelen, Sandra, Hendriksen, Jos G., Looman, Caspar W. N., de Nijs, Pieter F. A., de Wit, Marie-Claire
Julkaisussa J Neurodev Disord (2017)

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

Tekijä Smits, Daphne J., Schot, Rachel, Wilke, Martina, van Slegtenhorst, Marjon, de Wit, Marie Claire Y., Dremmen, Marjolein H.G., Dobyns, William B., Barkovich, A. James, Mancini, Grazia M.S.
Julkaisussa Neurol Genet (2021)

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

Tekijä Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.
Julkaistu 2011

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

Tekijä Overwater, Iris E, Swenker, Rob, van der Ende, Emma L, Hanemaayer, Kimberley BM, Hoogeveen-Westerveld, Marianne, van Eeghen, Agnies M, Lequin, Maarten H, van den Ouweland, Ans MW, Moll, Henriëtte A, Nellist, Mark, de Wit, Marie-Claire Y
Julkaisussa Eur J Hum Genet (2016)

An overview of health issues and development in a large clinical cohort of children with Angelman syndrome

Tekijä Bindels‐de Heus, Karen G. C. B., Mous, Sabine E., ten Hooven‐Radstaake, Maartje, van Iperen‐Kolk, Bianca M., Navis, Cindy, Rietman, André B., ten Hoopen, Leontine W., Brooks, Alice S., Elgersma, Ype, Moll, Henriëtte A., de Wit, Marie‐Claire Y.
Julkaisussa Am J Med Genet A (2019)

Radiation Exposure From Pediatric CT Scans and Subsequent Cancer Risk in the Netherlands

Tekijä Meulepas, Johanna M, Ronckers, Cécile M, Smets, Anne M J B, Nievelstein, Rutger A J, Gradowska, Patrycja, Lee, Choonsik, Jahnen, Andreas, van Straten, Marcel, de Wit, Marie-Claire Y, Zonnenberg, Bernard, Klein, Willemijn M, Merks, Johannes H, Visser, Otto, van Leeuwen, Flora E, Hauptmann, Michael
Julkaisussa J Natl Cancer Inst (2018)

Response to Wollschläger, Blettner, and Pokora

Tekijä Meulepas, Johanna M, Ronckers, Cecile M, Smets, Anne M J B, Nievelstein, Rutger A J, Gradowska, Patrycja, Lee, Choonsik, Jahnen, Andreas, van Straten, Marcel, de Wit, Marie-Claire Y, Zonnenberg, Bernard, Klein, Willemijn M, Merks, Johannes H, Visser, Otto, van Leeuwen, Flora E, Hauptmann, Michael
Julkaisussa J Natl Cancer Inst (2019)

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

Tekijä Kheradmand Kia, Sima, Verbeek, Elly, Engelen, Erik, Schot, Rachel, Poot, Raymond A., de Coo, Irenaeus F.M., Lequin, Maarten H., Poulton, Cathryn J., Pourfarzad, Farzin, Grosveld, Frank G., Brehm, António, de Wit, Marie Claire Y., Oegema, Renske, Dobyns, William B., Verheijen, Frans W., Mancini, Grazia M.S.
Julkaistu 2012

Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

Tekijä Verkerk, Annemieke J.M.H., Schot, Rachel, van Waterschoot, Laura, Douben, Hannie, Poddighe, Pino J., Lequin, Maarten H., de Vries, Linda S., Terhal, Paulien, Hahnemann, Johanne M.D., de Coo, Irenaeus F.M., de Wit, Marie-Claire Y., Wafelman, Leontien S., Garavelli, Livia, Dobyns, William B., Van der Spek, Peter J., de Klein, Annelies, Mancini, Grazia M.S.
Julkaistu 2010

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

Tekijä Nellist, Mark, Brouwer, Rutger WW, Kockx, Christel EM, van Veghel-Plandsoen, Monique, Withagen-Hermans, Caroline, Prins-Bakker, Lida, Hoogeveen-Westerveld, Marianne, Mrsic, Alan, van den Berg, Mike MP, Koopmans, Anna E, de Wit, Marie-Claire, Jansen, Floor E, Maat-Kievit, Anneke JA, van den Ouweland, Ans, Halley, Dicky, de Klein, Annelies, van IJcken, Wilfred FJ
Julkaisussa BMC Med Genet (2015)

Sodium channel SCN3A (Na(V)1.3) regulation of human cerebral cortical folding and oral motor development

Tekijä Smith, Richard S., Kenny, Connor J., Ganesh, Vijay, Jang, Ahram, Borges-Monroy, Rebeca, Partlow, Jennifer N., Hill, R. Sean, Shin, Taehwan, Chen, Allen Y., Doan, Ryan N., Anttonen, Anna-Kaisa, Ignatius, Jaakko, Medne, Livija, Bönnemann, Carsten G., Hecht, Jonathan L., Salonen, Oili, Barkovich, A. James, Poduri, Annapurna, Wilke, Martina, de Wit, Marie Claire Y., Mancini, Grazia M.S., Sztriha, Laszlo, Im, Kiho, Amrom, Dina, Andermann, Eva, Paetau, Ritva, Lehesjoki, Anna-Elina, Walsh, Christopher A., Lehtinen, Maria K.
Julkaisussa Neuron (2018)

Effectiveness and safety of Triac in children and adults with MCT8 deficiency: an international, multicentre, single group, open-label, phase 2 trial

Tekijä Groeneweg, Stefan, Peeters, Robin P., Moran, Carla, Stoupa, Athanasia, Auriol, Françoise, Tonduti, Davide, Dica, Alice, Paone, Laura, Rozenkova, Klara, Malikova, Jana, van der Walt, Adri, de Coo, Irenaeus F.M., McGowan, Anne, Lyons, Greta, Aarsen, Femke K., Barca, Diana, van Beynum, Ingrid. M., van der Knoop, Marieke M., Jansen, Jurgen, Manshande, Martien, Lunsing, Roelineke J., Nowak, Stan, den Uil, Corstiaan A., Carola Zillikens, M., Visser, Frank E., Vrijmoeth, Paul, de Wit, Marie Claire Y., Wolf, Nicole I., Zandstra, Angelique, Ambegaonkar, Gautam, Singh, Yogen, de Rijke, Yolanda B., Medici, Marco, Bertini, Enrico S., Depoorter, Sylvia, Lebl, Jan, Cappa, Marco, De Meirleir, Linda, Krude, Heiko, Craiu, Dana, Zibordi, Federica, Petit, Isabelle Oliver, Polak, Michel, Chatterjee, Krishna, Visser, Theo J., Edward Visser, W.
Julkaisussa Lancet Diabetes Endocrinol (2019)

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Tekijä Magini, Pamela, Smits, Daphne J., Vandervore, Laura, Schot, Rachel, Columbaro, Marta, Kasteleijn, Esmee, van der Ent, Mees, Palombo, Flavia, Lequin, Maarten H., Dremmen, Marjolein, de Wit, Marie Claire Y., Severino, Mariasavina, Divizia, Maria Teresa, Striano, Pasquale, Ordonez-Herrera, Natalia, Alhashem, Amal, Al Fares, Ahmed, Al Ghamdi, Malak, Rolfs, Arndt, Bauer, Peter, Demmers, Jeroen, Verheijen, Frans W., Wilke, Martina, van Slegtenhorst, Marjon, van der Spek, Peter J., Seri, Marco, Jansen, Anna C., Stottmann, Rolf W., Hufnagel, Robert B., Hopkin, Robert J., Aljeaid, Deema, Wiszniewski, Wojciech, Gawlinski, Pawel, Laure-Kamionowska, Milena, Alkuraya, Fowzan S., Akleh, Hanah, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Zaki, Maha S., Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Davidov, Bella, Basel-Salmon, Lina, Bazak, Lily, Shahar, Noa Ruhrman, Bertoli-Avella, Aida, Mirzaa, Ghayda M., Dobyns, William B., Pippucci, Tommaso, Fornerod, Maarten, Mancini, Grazia M.S.
Julkaisussa Am J Hum Genet (2019)

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Tekijä Groeneweg, Stefan, van Geest, Ferdy S, Abaci, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautem, Armour, Christine, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castaglioni, Claudia, Castellotti, Barbara, Chatterjee, Krishna, de Coo, Irenaeus FM, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein HG, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Lorea, Cláudia Fernandes, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Koolen, David, Konrad, Daniel, Krude, Heiko, Lawson–Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, Lourenço, Charles Marques, McGowan, Anne, Mericq, Veronica, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, de Oliveira Poswar, Fabiano, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba Seven, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou AM, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward
Julkaisussa Lancet Diabetes Endocrinol (2020)