Michèl A A P Willemsen

Michèl A A P Willemsen

UNVERIFIED PROFILE

Are you Michèl A A P Willemsen?   Register this Author

Register author
Michèl A A P Willemsen

Michèl A A P Willemsen

Publications by authors named "Michèl A A P Willemsen"

Are you Michèl A A P Willemsen?   Register this Author

60Publications

1435Reads

28Profile Views

Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.

Ophthalmol Retina 2019 Jun 7;3(6):500-509. Epub 2019 Feb 7.

Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.oret.2019.01.023DOI Listing
June 2019

Daily Functioning and Quality of Life in Patients with Sjögren-Larsson Syndrome.

Neuropediatrics 2019 04 4;50(2):89-95. Epub 2019 Jan 4.

Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Amalia Children's Hospital, Department of Pediatric Neurology, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0038-1676854DOI Listing
April 2019

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

Neurology 2019 01 30;92(1):e19-e29. Epub 2018 Nov 30.

From the Department of Neurology-Pediatric Neurology (N.J.H.v.O., M.A.A.P.W.) and Department of Neurology (N.J.H.v.O., J.v.G., B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology (A.H.), Addenbrookes Hospital, Cambridge; Institute of Cancer & Genomic Sciences (A.M.R.T.), University of Birmingham, UK; Department of Internal Medicine (M.v.D.), Radboud University Medical Center, Nijmegen; Department of Pediatric Infectious Diseases and Immunology (C.M.R.W.), Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, and Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006700DOI Listing
January 2019

Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal.

Eur J Paediatr Neurol 2018 Nov 15;22(6):1110-1117. Epub 2018 Aug 15.

Department of Pediatric Neurology & Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2018.07.012DOI Listing
November 2018

Understanding fetal factors that contribute to preterm birth: Sjögren-Larsson syndrome as a model.

J Perinat Med 2018 Jul;46(5):523-529

Department of Pediatric Neurology, Radboud University Medical Center, Donders Institute for Brain Cognition and Behaviour, Nijmegen, TheNetherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpm-2017-0187DOI Listing
July 2018

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome.

J Neurol Neurosurg Psychiatry 2018 06 26;89(6):668-670. Epub 2017 Sep 26.

Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2017-316861DOI Listing
June 2018

Author response: l-Dopa in dystonia: A modern perspective.

Neurology 2018 01;90(1):47

(Nijmegen, the Netherlands).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000004783DOI Listing
January 2018

Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

Dev Med Child Neurol 2017 07 20;59(7):680-689. Epub 2017 Mar 20.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13424DOI Listing
July 2017

Ataxia-telangiectasia: Immunodeficiency and survival.

Clin Immunol 2017 05 24;178:45-55. Epub 2017 Jan 24.

Department of Neurology - Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2017.01.009DOI Listing
May 2017

l-Dopa in dystonia: A modern perspective.

Neurology 2017 May 7;88(19):1865-1871. Epub 2017 Apr 7.

From the Department of Neurology (R.P.P.W.M.M., T.W., B.P.C.v.d.W.), Donders Institute for Brain, Cognition, and Behaviour (R.P.P.W.M.M., T.W., B.P.C.v.d.W., M.A.A.P.W.), and Department of Pediatric Neurology (M.A.A.P.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Complex Motor Disorders Service (J.-P.L.), Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003897DOI Listing
May 2017

Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren-Larsson syndrome.

Acta Ophthalmol 2016 Nov 7;94(7):e663-e664. Epub 2016 Apr 7.

Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.13042DOI Listing
November 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

Zileuton for Pruritus in Sjögren-Larsson Syndrome: A Randomized Double-blind Placebo-controlled Crossover Trial.

Acta Derm Venereol 2016 Feb;96(2):255-6

Department of Pediatrics, Radboud university medical centre (Radboudumc), PO Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2195DOI Listing
February 2016

Small biparietal diameter and head circumference are part of the phenotype instead of independent prognostic markers in fetuses with spinal dysraphism.

Fetal Diagn Ther 2015 12;37(2):135-40. Epub 2014 Nov 12.

Department of Paediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/366157
Publisher Site
http://dx.doi.org/10.1159/000366157DOI Listing
November 2015

Clinical outcome of cloacal exstrophy, current status, and a change in surgical management.

Eur J Pediatr Surg 2015 Feb 25;25(1):87-93. Epub 2014 Nov 25.

Division of Pediatric Surgery, Department of Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0034-1387943DOI Listing
February 2015

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.

BMC Ophthalmol 2014 May 1;14:59. Epub 2014 May 1.

Department of Human Genetics, Radboud University Medical Center, P,O, Box 9101, Nijmegen, HB 6500, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2415-14-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021540PMC
May 2014

Multimodal imaging of the macula in hereditary and acquired lack of macular pigment.

Acta Ophthalmol 2014 Mar 7;92(2):138-42. Epub 2013 Feb 7.

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, the NetherlandsUniversity Eye Clinic, Maastricht, the NetherlandsDepartment of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, the NetherlandsDepartment of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.12092DOI Listing
March 2014

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.

J Magn Reson Imaging 2013 Apr 10;37(4):974-80. Epub 2012 Oct 10.

Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmri.23852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025321PMC
April 2013

The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.

JIMD Rep 2012 2;4:39-45. Epub 2011 Nov 2.

Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Centre for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2011_84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520506PMC
February 2013

Sjögren-Larsson syndrome in clinical practice.

J Inherit Metab Dis 2012 Nov 26;35(6):955-62. Epub 2012 Jul 26.

Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-012-9518-6DOI Listing
November 2012

Reviewing the genetic causes of spastic-ataxias.

Neurology 2012 Oct;79(14):1507-14

Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/79/14/1507.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e31826d5fb
Publisher Site
http://dx.doi.org/10.1212/WNL.0b013e31826d5fb0DOI Listing
October 2012

Neuropathology in classical and variant ataxia-telangiectasia.

Neuropathology 2012 Jun 24;32(3):234-44. Epub 2011 Oct 24.

Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour Pathology, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1440-1789.2011.01263.xDOI Listing
June 2012

Clinical practice: swallowing problems in cerebral palsy.

Eur J Pediatr 2012 Mar 20;171(3):409-14. Epub 2011 Sep 20.

Donders Institute for Brain, Cognition and Behaviour, Department of Paediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-011-1570-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284655PMC
March 2012

Cognitive and speech-language performance in children with ataxia telangiectasia.

Dev Neurorehabil 2011 ;14(5):315-22

Department of Medical Psychology, Radboud University Nijmegen Medical Centre, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/17518423.2011.603368DOI Listing
January 2012

Nocturnal apnea in Chiari type I malformation.

Eur J Pediatr 2011 Oct 4;170(10):1349-52. Epub 2011 Jun 4.

Department of Pediatrics, Máxima Medical Centre, Veldhoven Postbus 7777, 5500 MB Veldhoven, the Netherlands.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00431-011-1500-z
Publisher Site
http://dx.doi.org/10.1007/s00431-011-1500-zDOI Listing
October 2011

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

Am J Med Genet A 2010 Oct;152A(10):2612-7

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33620
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33620DOI Listing
October 2010

Patients with Sjögren-Larsson syndrome lack macular pigment.

Ophthalmology 2010 May 16;117(5):966-71. Epub 2010 Feb 16.

University Eye Clinic, Maastricht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2009.10.019DOI Listing
May 2010

Two Greek siblings with sepiapterin reductase deficiency.

Mol Genet Metab 2008 Aug 27;94(4):403-9. Epub 2008 May 27.

Department of Neurology, Laboratory of Pediatrics and Neurology, 830 LKN, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://www.biopku.org/pdf/verbeek_sr_2008.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S109671920800113
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2008.04.003DOI Listing
August 2008

Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography.

Ophthalmology 2008 May 12;115(5):870-5. Epub 2007 Sep 12.

Department of Pediatric Neurology, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ophtha.2007.05.063DOI Listing
May 2008

Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?

Pediatr Nephrol 2008 Feb 19;23(2):307-10. Epub 2007 Jul 19.

Department of Pediatric Nephrology, University Medical Centre St Radboud, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-007-0543-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668588PMC
February 2008

Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene.

Ann Neurol 2007 Oct;62(4):422-6

Department of Neurology and Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.21199DOI Listing
October 2007

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

Arch Dis Child 2007 Aug 6;92(8):687-9. Epub 2006 Nov 6.

Department of Paediatrics, Máxima Medical Center, Veldhoven, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/adc.2006.103192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083882PMC
August 2007

The spectrum of polyneuropathies in childhood detected with electromyography.

Pediatr Neurol 2007 Jun;36(6):393-6

Department of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2007.02.013DOI Listing
June 2007

Childhood white matter disorders: quantitative MR imaging and spectroscopy.

Radiology 2006 Nov;241(2):510-7

Department of Child Neurology, Vrije Universiteit Medical Center, De Boelelaan 1117, 1007 MB Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1148/radiol.2412051345DOI Listing
November 2006

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.

Clin Chem 2006 Jul 18;52(7):1395-405. Epub 2006 May 18.

Laboratory of Pediatrics and Neurology and Department of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2006.069112DOI Listing
July 2006

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Nat Med 2006 Mar 19;12(3):307-9. Epub 2006 Feb 19.

Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nm1366DOI Listing
March 2006

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

Pediatr Neurol 2005 Oct;33(4):277-9

Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2005.04.011DOI Listing
October 2005

Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR.

NMR Biomed 2005 Aug;18(5):331-6

Radboud University Nijmegen Medical Centre, Laboratory of Pediatrics and Neurology, NL-6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/nbm.966DOI Listing
August 2005

Cerebral folate deficiency syndrome.

N Engl J Med 2005 Aug;353(7):740; author reply 740

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJM200508183530721DOI Listing
August 2005

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

Eur J Pediatr 2005 Jan 23;164(1):28-30. Epub 2004 Oct 23.

Department of Paediatric Neurology, University Medical Center Nijmegen, 9101, 6500 HB, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-004-1559-xDOI Listing
January 2005

Novel mutations in three patients with LGMD2C with phenotypic differences.

Pediatr Neurol 2004 Apr;30(4):291-4

Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2003.11.006DOI Listing
April 2004

MR imaging and proton MR spectroscopic studies in Sjögren-Larsson syndrome: characterization of the leukoencephalopathy.

AJNR Am J Neuroradiol 2004 Apr;25(4):649-57

Department of Pediatric Neurology, University Medical Center Nijmegen, the Netherlands.

View Article

Download full-text PDF

Source
April 2004