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Michel A.A.P. Willemsen
Michel A.A.P. Willemsen
Professor of pediatric neurology, Radboudumc, Nijmegen, The Netherlands
Geverifieerd e-mailadres voor radboudumc.nl
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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
5672006
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
4652007
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
4232010
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
3602012
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
3062023
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
2712017
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
2552008
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
2442002
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
2332010
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
2252012
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
2242010
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
2142017
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
2112017
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
2042012
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
2022003
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
1872012
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
1832016
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
1812003
Clinical spectrum of ataxia-telangiectasia in adulthood
MMM Verhagen, WF Abdo, M Willemsen, FBL Hogervorst, D Smeets, ...
Neurology 73 (6), 430-437, 2009
1782009
Mutations in DDHD2, encoding an intracellular phospholipase A1, cause a recessive form of complex hereditary spastic paraplegia
JHM Schuurs-Hoeijmakers, MT Geraghty, EJ Kamsteeg, S Ben-Salem, ...
The American Journal of Human Genetics 91 (6), 1073-1081, 2012
1752012
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Artikelen 1–20