Michel A Willemsen

Michel A Willemsen

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Michel A Willemsen

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Hypointensity of the basal ganglia in adults with GLUT1 deficiency syndrome: a novel MRI finding.

Ann Neurol 2019 Nov 11. Epub 2019 Nov 11.

Department of Child Neurology, Canisius Wilhelmina Hospital.

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http://dx.doi.org/10.1002/ana.25640DOI Listing
November 2019

A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

JIMD Rep 2019 Nov 30;50(1):31-39. Epub 2019 Sep 30.

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

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http://dx.doi.org/10.1002/jmd2.12060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850978PMC
November 2019

Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation.

Acta Derm Venereol 2019 Oct 21. Epub 2019 Oct 21.

Department of dermatology, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.2340/00015555-3358DOI Listing
October 2019

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

J Inherit Metab Dis 2019 Sep 23;42(5):984-992. Epub 2019 Apr 23.

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

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http://dx.doi.org/10.1002/jimd.12095DOI Listing
September 2019

The Ketogenic Diet and Its Effect on Bone Mineral Density: A Retrospective Observational Cohort Study.

Neuropediatrics 2019 Aug 9. Epub 2019 Aug 9.

Department of Pediatric Neurology, Amalia Children's Hospital, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1055/s-0039-1693059DOI Listing
August 2019

De novo SPAST mutations may cause a complex SPG4 phenotype.

Brain 2019 Jul;142(7):e31

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

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http://dx.doi.org/10.1093/brain/awz140DOI Listing
July 2019

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:

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

Failure of ketogenic diet therapy in GLUT1 deficiency syndrome.

Eur J Paediatr Neurol 2019 May 27;23(3):404-409. Epub 2019 Feb 27.

Department of Neurology, Academic Center for Epileptology, Kempenhaeghe and Maastricht University Medical Centre, Heeze, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.02.012DOI Listing
May 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.

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

Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity.

Mov Disord 2019 03 6;34(3):317-320. Epub 2019 Feb 6.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, the Netherlands.

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http://dx.doi.org/10.1002/mds.27627DOI Listing
March 2019

Failing Transmission.

Neuropediatrics 2019 02 29;50(1). Epub 2018 Oct 29.

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

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http://dx.doi.org/10.1055/s-0038-1675559DOI Listing
February 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.

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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.

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

A brother and sister with intellectual disability and characteristic neuroimaging findings.

Eur J Paediatr Neurol 2018 Sep 25;22(5):866-869. Epub 2018 Jun 25.

Department of Neurology (Paediatric Neurology) and Amalia Children's Hospital, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183020
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http://dx.doi.org/10.1016/j.ejpn.2018.06.005DOI Listing
September 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.

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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.

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

Dystonia in childhood: Rising networks.

Eur J Paediatr Neurol 2018 03;22(2):219-220

Radboud University Medical Center, Amalia Children's Hospital & Radboudumc Expert Centre for Genetic Movement Disorders, Department of Neurology (Pediatric Neurology), Pediatric Neurology (804), PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.020DOI Listing
March 2018

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

Neurology 2018 01;90(1):47

(Nijmegen, the Netherlands).

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

Anemia in Glucose Transporter Type 1 Deficiency Syndrome: Often Expected, Rarely Encountered, and with a Fascinating Explanation.

Neuropediatrics 2017 10 5;48(5):327-328. Epub 2017 Jun 5.

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

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http://dx.doi.org/10.1055/s-0037-1603519DOI Listing
October 2017

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.

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

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Eur J Hum Genet 2017 06 5;25(6):771-774. Epub 2017 Apr 5.

Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477372PMC
June 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.

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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.

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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.

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

Neurometabolic disorders: Five new things.

Neurol Clin Pract 2016 Aug;6(4):348-357

Department of Pediatric Neurology, Donders Centre for Brain, Cognition and Behavior (MAW), and Department of Laboratory Medicine, Translational Metabolic Laboratory (RAW), Radboud University Medical Centre, Nijmegen, the Netherlands; and Department of Neuroradiology (IH), University of Heidelberg Medical Center, Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727707PMC
August 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.

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

Hourly analysis of cerebrospinal fluid glucose shows large diurnal fluctuations.

J Cereb Blood Flow Metab 2016 05 4;36(5):899-902. Epub 2016 Mar 4.

Department of Geriatric Medicine, Radboud University Medical Center, Nijmegen, The Netherlands Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/0271678X16637612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853846PMC
May 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.

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

Serum inflammatory mediators correlate with disease activity in electrical status epilepticus in sleep (ESES) syndrome.

Epilepsia 2016 Feb 14;57(2):e45-50. Epub 2015 Dec 14.

Department of Pediatric Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/epi.13274DOI Listing
February 2016

Lactate and its many faces.

Eur J Paediatr Neurol 2016 Jan 9;20(1):3-10. Epub 2015 Oct 9.

Departments of Paediatric Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.09.008DOI Listing
January 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.

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

Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment.

Eur J Paediatr Neurol 2015 Nov 21;19(6):726-9. Epub 2015 Jul 21.

University of Groningen, University Medical Center Groningen, Department of Pediatrics, Groningen, The Netherlands; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejpn.2015.07.003DOI Listing
November 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Neurology 2015 May 1;84(21):2177-82. Epub 2015 May 1.

From the Department of Neurology (M.R., D.J.L., M.A.W.), Translational Metabolic Laboratory, Department of Laboratory Medicine (M.R., D.J.L., R.A.W.), Department of Human Genetics, Radboud Institute for Molecular Life Sciences (M.R., E.v.B., T.R., L.E.V., H.v.B.), and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour (H.v.B.), Radboud University Medical Center, Nijmegen, the Netherlands; Metabolic Unit, Department of Pediatrics (H.M.), and Institute of Human Genetics (R.G.-B.), Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Techion-Israel Institute of Technology, Haifa; Department of Human Genetics (I.G.), Leiden University Medical Center, the Netherlands; Department of Medical Genetics (T.R.), Sydney Children's Hospital, University of New South Wales, Sydney, Australia; Department of Diagnostic Imaging (A.E.), Rambam Health Care Campus, Haifa; and Department of Molecular Genetics (M.G., S.P.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001615DOI Listing
May 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.

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

Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.

Mol Genet Metab 2015 Jan 4;114(1):51-4. Epub 2014 Nov 4.

Department of Paediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Geert Grooteplein zuid 10, route 801, 6525 GA Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.10.016DOI Listing
January 2015

Callosal alterations in pyridoxine-dependent epilepsy.

Dev Med Child Neurol 2014 Nov 18;56(11):1106-10. Epub 2014 Jun 18.

Department of Radiology, Seattle Children's Hospital, Seattle, WA, USA.

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http://dx.doi.org/10.1111/dmcn.12511DOI Listing
November 2014

Little folks, little myelin, and little teeth.

Neurology 2014 Nov 22;83(21):1884-5. Epub 2014 Oct 22.

From the Department of (Pediatric) Neurology (M.A.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and the Division of Child Neurology and Psychiatry (S.D.), Scientific Research Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001010DOI Listing
November 2014

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.

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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.

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

Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: a diagnostic challenge.

Mov Disord 2013 Dec 3;28(14):2035-6. Epub 2013 Sep 3.

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

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http://dx.doi.org/10.1002/mds.25622DOI Listing
December 2013

Child neurology: differential diagnosis of a low CSF glucose in children and young adults.

Neurology 2013 Dec;81(24):e178-81

From the Department of Neurology (W.G.L., B.G.E., M.M.V.) and Department of Pediatric Neurology (M.A.W.), Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands; Department of Pediatrics (C.J.d.W.), Genetics (E.J.K.), and Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Centre, Nijmegen, the Netherlands; and Department of Pediatrics and Pediatric Neurology (J.K.), Children's Hospital, Aschaffenburg, Germany.

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http://dx.doi.org/10.1212/01.wnl.0000437294.20817.99DOI Listing
December 2013

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

JAMA Neurol 2013 Nov;70(11):1440-4

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

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http://dx.doi.org/10.1001/jamaneurol.2013.3090DOI Listing
November 2013

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.

Mov Disord 2013 Sep 25;28(10):1439-42. Epub 2013 Jun 25.

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

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http://dx.doi.org/10.1002/mds.25515DOI Listing
September 2013

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.

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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.

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

Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice.

PLoS One 2012 6;7(8):e42745. Epub 2012 Aug 6.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0042745PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412827PMC
January 2013

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Am J Hum Genet 2012 Dec 15;91(6):1122-7. Epub 2012 Nov 15.

Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2012.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516611PMC
December 2012

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.

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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.

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

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

J Inherit Metab Dis 2012 Sep 17;35(5):909-16. Epub 2012 Jan 17.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-011-9443-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432202PMC
September 2012

Long-term outcome in pyridoxine-dependent epilepsy.

Dev Med Child Neurol 2012 Sep 13;54(9):849-54. Epub 2012 Jul 13.

Department of Pediatrics, Máxima Medical Center, Veldhoven, the Netherlands.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04347.xDOI Listing
September 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.

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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.

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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.

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

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.

J Pediatr 2011 Dec 13;159(6):1041-3.e2. Epub 2011 Sep 13.

Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2011.08.007DOI Listing
December 2011

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.

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

New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS).

Mitochondrion 2011 Sep 17;11(5):778-82. Epub 2011 Jun 17.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2011.06.004DOI Listing
September 2011

Motor problems in Prader-Willi syndrome: a systematic review on body composition and neuromuscular functioning.

Neurosci Biobehav Rev 2011 Jan 4;35(3):956-69. Epub 2010 Nov 4.

Radboud University Nijmegen Medical Centre, Scientific Institute for Quality of Health Care, Department of Pediatrics 818, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.neubiorev.2010.10.015DOI Listing
January 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.

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http://doi.wiley.com/10.1002/ajmg.a.33620
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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.

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

Antenatal treatment in two Dutch families with pyridoxine-dependent seizures.

Eur J Pediatr 2010 Mar 9;169(3):297-303. Epub 2009 Jul 9.

Department of Paediatrics, Máxima Medical Centre, P.O. Box 7777, 5500 MB, Veldhoven, The Netherlands.

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http://dx.doi.org/10.1007/s00431-009-1020-2DOI Listing
March 2010

Rituximab and intravenous immunoglobulins for relapsing postinfectious opsoclonus-myoclonus syndrome.

Pediatr Neurol 2008 Sep;39(3):213-7

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.05.015DOI Listing
September 2008

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.

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http://www.biopku.org/pdf/verbeek_sr_2008.pdf
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http://dx.doi.org/10.1016/j.ymgme.2008.04.003DOI Listing
August 2008