Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study von Amant, Frédéric, Dr, Van Calsteren, Kristel, PhD, Halaska, Michael J, PhD, Gziri, Mina Mhallem, MD, Hui, Wei, MD, Lagae, Lieven, PhD, Willemsen, Michèl A, PhD, Kapusta, Livia, PhD, Van Calster, Ben, PhD, Wouters, Heidi, MSc, Heyns, Liesbeth, MSc, Han, Sileny N, MD, Tomek, Viktor, MD, Mertens, Luc, PhD, Ottevanger, Petronella B, PhD

Volltext

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role von Bisello, Giovanni, Kusmierska, Katarzyna, Verbeek, Marcel M., Sykut–Cegielska, Jolanta, Willemsen, Michèl A. A. P., Wevers, Ron A., Szymańska, Krystyna, Poznanski, Jarosław, Drozak, Jakub, Wertheim–Tysarowska, Katarzyna, Rygiel, Agnieszka Magdalena, Bertoldi, Mariarita

Volltext

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions von Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.

Volltext

Predicting non‐response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities von Orriëns, Lynn B., Hulst, Karen, Willemsen, Michèl A. A. P., Hoogen, Frank J. A., Erasmus, Corrie E.

Volltext

Comparing the evidence for botulinum neurotoxin injections in paediatric anterior drooling: a scoping review von Orriëns, Lynn B., van Hulst, Karen, van der Burg, Jan J. W., van den Hoogen, Frank J. A., Willemsen, Michèl A. A. P., Erasmus, Corrie E.

Volltext

Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism von van Outersterp, Rianne E., Kooijman, Pieter C., Merx, Jona, Engelke, Udo F.H., Omidikia, Nematollah, Tonneijck, Mei-Lan H., Houthuijs, Kas J., Berden, Giel, Peters, Tessa M.A., Lefeber, Dirk J., Willemsen, Michel A. A. P., Mecinovic, Jasmin, Jansen, Jeroen J., Coene, Karlien L.M., Wevers, Ron A., Boltje, Thomas J., Oomens, Jos, Martens, Jonathan

Volltext

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder von Tiemens, Dagmar K, Kleimeier, Lotte, Leenders, Erika, Wingbermühle, Ellen, Roelofs, Renee L, Sibbles, Barbara, Oostwegel, Floor S M, Vroonland, Eva, van Leeuwen, Conny, Niessen, Hanneke, Sonnega, Paul, Duursma, Anniek, Willemsen, Michel A A P, Draaisma, Jos M T, Pittens, Carina A C M

Volltext

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder von Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.

Volltext

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders von van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl Aap, Scheffer, Hans, Kamsteeg, Erik-Jan

Volltext

How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques von Wortmann, Saskia B., Oud, Machteld M., Alders, Mariëlle, Coene, Karlien L. M., Crabben, Saskia N., Feichtinger, René G., Garanto, Alejandro, Hoischen, Alex, Langeveld, Mirjam, Lefeber, Dirk, Mayr, Johannes A., Ockeloen, Charlotte W., Prokisch, Holger, Rodenburg, Richard, Waterham, Hans R., Wevers, Ron A., Warrenburg, Bart P. C., Willemsen, Michel A. A. P., Wolf, Nicole I., Vissers, Lisenka E. L. M., Karnebeek, Clara D. M.

Volltext

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan von Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E L M, Schraders, Margit, Altunoglu, Umut, Buckley, Michael F, Brunner, Han G, Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A, Gilissen, Christian, Mancini, Grazia M S, Delrée, Paul, Willemsen, Michèl A, Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A J, Tan-Sindhunata, Gita M B, de Die-Smulders, Christine E, Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L, Lefeber, Dirk J, Lin, Yung-Yao, van Bokhoven, Hans

Volltext

Lactate infusion as therapeutical intervention: a scoping review von van Gemert, Loes A., de Galan, Bastiaan E., Wevers, Ron A., ter Heine, Rob, Willemsen, Michèl A.

Volltext

L-Dopa in dystonia: A modern perspective von Maas, Roderick P.P.W.M, Wassenberg, Tessa, Lin, Jean-Pierre, van de Warrenburg, Bart P.C, Willemsen, Michèl A.A.P

Volltext

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency von Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F, Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S, Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L, Lee, Wang Tso, Kurian, Manju A, Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas

Volltext

Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia von Schon, Katherine, van Os, Nienke J.H., Oscroft, Nicholas, Baxendale, Helen, Scoffings, Daniel, Ray, Julian, Suri, Mohnish, Whitehouse, William P., Mehta, Puja R., Everett, Natasha, Bottolo, Leonardo, Warrenburg, Bart P., Byrd, Philip J., Weemaes, Corry, Willemsen, Michel A., Tischkowitz, Marc, Taylor, A. Malcolm, Hensiek, Anke E.

Volltext

Hourly analysis of cerebrospinal fluid glucose shows large diurnal fluctuations von Verbeek, Marcel M, Leen, Wilhelmina G, Willemsen, Michèl A, Slats, Diane, Claassen, Jurgen A

Volltext

Long-term outcome in pyridoxine-dependent epilepsy von BOK, LEVINUS A, HALBERTSMA, FEICO J, HOUTERMAN, SASKIA, WEVERS, RON A, VREESWIJK, CHARLOTTE, JAKOBS, CORNELIS, STRUYS, EDUARD, VAN DER HOEVEN, JOHAN H, SIVAL, DEBORAH A, WILLEMSEN, MICHÈL A

Volltext

Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review von Leen, Wilhelmina G, Wevers, Ron A, Kamsteeg, Erik-Jan, Scheffer, Hans, Verbeek, Marcel M, Willemsen, Michèl A

Volltext

Clinical practice: Swallowing problems in cerebral palsy von Erasmus, Corrie E., van Hulst, Karen, Rotteveel, Jan J., Willemsen, Michel A. A. P., Jongerius, Peter H.

Volltext

Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation von Houwen‐van Opstal, Saskia L. S., Heutinck, Lotte, Jansen, Merel, Krom, Yvonne D., Cup, Edith H. C., Hendriksen, Jos G. M., Willemsen, Michel A. A. P., Verschuuren, Jan J. G. M., Niks, Erik H., Groot, Imelda J. M.

Volltext