Michel A.A.P. Willemsen

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Ron WeversProfessor in Clinical Chemistry in NijmegenVerified email at radboudumc.nl
Levinus Adrianus BokVerified email at mmc.nl
Hans van BokhovenHoogleraar RadboudumcVerified email at radboudumc.nl
Lisenka VissersProfessor of Translational Genomics 🧬Verified email at radboudumc.nl
Dr Udo FH Engelkewetenschappelijk laboratoriummedewerkerVerified email at labgk.umcn.nl
Joris VeltmanInstitute of Genetics & Cancer, University of Edinburgh, United KingdomVerified email at ed.ac.uk
Martin LammensU.Z. ANTWERPENVerified email at uza.be
Tessa WassenbergPhD candidate, Neurology Resident, Radboudumc NijmegenVerified email at radboudumc.nl
Hans SchefferAssoc. Prof. Clinical Molecular Genetics, RadboudumcVerified email at radboudumc.nl
Arjan de BrouwerAssistant Professor Genetics, RaboudumcVerified email at radboudumc.nl
Christian GilissenRadboud university medical centerVerified email at radboudumc.nl
Deborah Sivalpediatric neurologist, Beatrix Children's Hospital, University Medical Center, University of Groningen, Groningen, the NetherlandsVerified email at umcg.nl
Thomas VoitProfessor University College LondonVerified email at ucl.ac.uk
Nenad BlauUniversity Children's Hospital Zürich, SwitzerlandVerified email at uitikon.ch
Prof. dr. Jan A.M. SmeitinkProfessor in Mitochondrial MedicineVerified email at radboudumc.nl
Judith van GaalenNeuroloog | Rijnstate Ziekenhuis & Radboudumc Expertisecentrum Parkinson en BewegingsstoornissenVerified email at radboudumc.nl
Marina AJ Tijssen de KoningProf & Head of Movement Disorders, department of Neurology, University Medical Center GroningenVerified email at umcg.nl
Karlien CoeneVerified email at radboudumc.nl
Wang-Tso LeeVerified email at ntu.edu.tw
Roser PonsProfessor, National and Kapodistrian University of AthensVerified email at med.uoa.gr

Michel A.A.P. Willemsen

Professor of pediatric neurology, Radboudumc, Nijmegen, The Netherlands

Verified email at radboudumc.nl

movement disorders neurometabolism ataxia telangiectasia GLUT1 deficiency syndrome Sjögren-Larsson syndrome


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Mutations in antiquitin in individuals with pyridoxine-dependent seizures PB Mills, E Struys, C Jakobs, B Plecko, P Baxter, M Baumgartner, ... Nature medicine 12 (3), 307-309, 2006	592	2006
Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007	496	2007
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder WG Leen, J Klepper, MM Verbeek, M Leferink, T Hofste, BG Van Engelen, ... Brain 133 (3), 655-670, 2010	453	2010
Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study F Amant, K Van Calsteren, MJ Halaska, MM Gziri, W Hui, L Lagae, ... The lancet oncology 13 (3), 256-264, 2012	373	2012
Development and developmental disorders of the human cerebellum HJ ten Donkelaar, WFA den Dunnen, M Lammens, P Wesseling, ... Clinical neuroembryology: development and developmental disorders of the …, 2023	321	2023
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology LELM Vissers, KJ Van Nimwegen, JH Schieving, EJ Kamsteeg, ... Genetics in Medicine 19 (9), 1055-1063, 2017	300	2017
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia BS Budde, Y Namavar, PG Barth, BT Poll-The, G Nürnberg, C Becker, ... Nature genetics 40 (9), 1113-1118, 2008	269	2008
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2) L van den Heuvel, K Assink, M Willemsen, L Monnens Human genetics 111, 544-547, 2002	253	2002
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ... Brain 133 (6), 1810-1822, 2010	246	2010
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency L Brun, LH Ngu, WT Keng, GS Ch'Ng, YS Choy, WL Hwu, WT Lee, ... Neurology 75 (1), 64-71, 2010	238	2010
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ... Nature genetics 44 (5), 581-585, 2012	237	2012
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency T Wassenberg, M Molero-Luis, K Jeltsch, GF Hoffmann, B Assmann, ... Orphanet journal of rare diseases 12, 1-21, 2017	232	2017
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ... Nature genetics 49 (2), 223-237, 2017	230	2017
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group J Klepper, C Akman, M Armeno, S Auvin, M Cervenka, HJ Cross, ... Epilepsia open 5 (3), 354-365, 2020	222	2020
Clinical practice: swallowing problems in cerebral palsy CE Erasmus, K van Hulst, JJ Rotteveel, MAAP Willemsen, PH Jongerius European journal of pediatrics 171, 409-414, 2012	217	2012
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations AL Gloyn, K Noordam, MAAP Willemsen, S Ellard, WWK Lam, ... diabetes 52 (9), 2433-2440, 2003	213	2003
Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline NJH van Os, N Roeleveld, CMR Weemaes, MCJ Jongmans, ... Clinical genetics 90 (2), 105-117, 2016	206	2016
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects MH Willemsen, LEL Vissers, MAAP Willemsen, BWM van Bon, T Kroes, ... Journal of medical genetics 49 (3), 179-183, 2012	204	2012
eIF2B-related disorders: antenatal onset and involvement of multiple organs MS Van Der Knaap, CGM Van Berkel, J Herms, R Van Coster, ... The American Journal of Human Genetics 73 (5), 1199-1207, 2003	192	2003
Clinical spectrum of ataxia-telangiectasia in adulthood MMM Verhagen, WF Abdo, M Willemsen, FBL Hogervorst, D Smeets, ... Neurology 73 (6), 430-437, 2009	190	2009

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