Michel A Willemsen

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. ncbi request reprint Neuroglycopenia in normoglycaemic patients, and the potential benefit of ketosis
    M A A P Willemsen
    Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Diabet Med 20:481-2. 2003
  2. ncbi request reprint 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
    Michel A A P Willemsen
    Department of Paediatric Neurology, University Medical Center Nijmegen, 9101, 6500 HB, Nijmegen, The Netherlands
    Eur J Pediatr 164:28-30. 2005
  3. ncbi request reprint Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluid
    M A A P Willemsen
    Department of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neuropediatrics 37:312-4. 2006
  4. doi request reprint Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
    Michel A Willemsen
    Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Paediatric Neurology 820 IKNC, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 133:1810-22. 2010
  5. doi request reprint Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review
    Wilhelmina G Leen
    Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands
    JAMA Neurol 70:1440-4. 2013
  6. doi request reprint Child Neurology: Differential diagnosis of a low CSF glucose in children and young adults
    Wilhelmina G Leen
    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
    Neurology 81:e178-81. 2013
  7. doi request reprint Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:802-11. 2013
  8. pmc Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1073-81. 2012
  9. pmc Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
    Janneke H M Schuurs-Hoeijmakers
    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
    Am J Hum Genet 91:1122-7. 2012
  10. pmc Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice
    Wilhelmina G Leen
    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands
    PLoS ONE 7:e42745. 2012

Collaborators

Detail Information

Publications20

  1. ncbi request reprint Neuroglycopenia in normoglycaemic patients, and the potential benefit of ketosis
    M A A P Willemsen
    Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Diabet Med 20:481-2. 2003
    ..The potential benefit of ketosis in neuroglycopenia is discussed from the therapeutic concept of a ketogenic diet in GLUT1-deficiency syndrome...
  2. ncbi request reprint 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
    Michel A A P Willemsen
    Department of Paediatric Neurology, University Medical Center Nijmegen, 9101, 6500 HB, Nijmegen, The Netherlands
    Eur J Pediatr 164:28-30. 2005
    ..He died from large cell lung carcinoma at the age of 23 years. A de novo heterozygous insertion mutation 859-860insC in the TITF-1 gene was demonstrated...
  3. ncbi request reprint Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluid
    M A A P Willemsen
    Department of Pediatric Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neuropediatrics 37:312-4. 2006
    ..Our findings illustrate that ingestion of exogenous compounds, e.g., in medication, food or "innocent" supplements, may lead to abnormal resonances in spectroscopy studies that might be difficult to assign...
  4. doi request reprint Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
    Michel A Willemsen
    Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Paediatric Neurology 820 IKNC, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 133:1810-22. 2010
    ..707T>C mutations. Carriership of at least one promotor mutation, however, apparently predicts type A tyrosine hydroxylase deficiency. Most patients with tyrosine hydroxylase deficiency can be successfully treated with l-dopa...
  5. doi request reprint Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review
    Wilhelmina G Leen
    Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands
    JAMA Neurol 70:1440-4. 2013
    ..Reports of patients with apparently normal CSF glucose levels, however, have raised the question whether CSF analysis is a reliable screening tool for GLUT1 deficiency syndrome...
  6. doi request reprint Child Neurology: Differential diagnosis of a low CSF glucose in children and young adults
    Wilhelmina G Leen
    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
    Neurology 81:e178-81. 2013
    ..We present a practical overview on the differential diagnosis of a low CSF glucose and stress the importance of recognizing a low CSF glucose as the diagnostic marker for GLUT1 deficiency syndrome, a treatable neurometabolic disorder. ..
  7. doi request reprint Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:802-11. 2013
    ..Mutations in more than 10% of all human genes are considered to be involved in this disorder, although the majority of these genes are still unknown...
  8. pmc Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1073-81. 2012
    ..We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease...
  9. pmc Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
    Janneke H M Schuurs-Hoeijmakers
    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
    Am J Hum Genet 91:1122-7. 2012
    ..Our findings suggest that PACS1 is necessary for the formation of craniofacial structures and that perturbation of its functions results in a specific syndromic ID phenotype...
  10. pmc Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice
    Wilhelmina G Leen
    Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands
    PLoS ONE 7:e42745. 2012
    ..Furthermore, hypoglycemia was associated with an increased CSF/plasma glucose ratio, whereas hyperglycemia did not affect the CSF/plasma glucose ratio...
  11. doi request reprint Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
    Wilhelmina G Leen
    Department of Neurology, Radboud University Nijmegen Medical Centre, 935 Neurology, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 133:655-70. 2010
    ..Our study demonstrates that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet...
  12. doi request reprint Rituximab and intravenous immunoglobulins for relapsing postinfectious opsoclonus-myoclonus syndrome
    Wilhelmina G Leen
    Department of Pediatric Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Pediatr Neurol 39:213-7. 2008
    ..Treatment with rituximab in combination with intravenous immunoglobulin, however, resulted in significant longterm clinical improvement...
  13. doi request reprint Two Greek siblings with sepiapterin reductase deficiency
    Marcel M Verbeek
    Department of Neurology, Laboratory of Pediatrics and Neurology, 830 LKN, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Mol Genet Metab 94:403-9. 2008
    ..Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far...
  14. doi request reprint Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet
    Wilhelmina G Leen
    Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands
    Mov Disord 28:1439-42. 2013
    ..First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in GLUT1DS...
  15. doi request reprint B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement
    Mailys Guillard
    Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Pediatr 159:1041-3.e2. 2011
    ..The tissue-specific expression of the defective B4GALT1 gene correlated with the clinical phenotype...
  16. ncbi request reprint Chronic herpes simplex virus encephalitis in childhood
    Wilhelmina G Leen
    Department of Pediatric Neurology, University Medical Centre St Radboud, Nijmegen, The Netherlands
    Pediatr Neurol 35:57-61. 2006
    ..Prolonged antiviral therapy was beneficial to later mental development...
  17. pmc Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
    Tony Roscioli
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 44:581-5. 2012
    ..These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates...
  18. doi request reprint Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family
    Eva Morava
    Radboud University Nijmegen, Department of Pediatrics, Nijmegen, The Netherlands
    J Clin Endocrinol Metab 96:E189-98. 2011
    ..Mutations in ANKH cause the highly divergent conditions familial chondrocalcinosis and craniometaphyseal dysplasia. The gene product ANK is supposed to regulate tissue mineralization by transporting pyrophosphate to the extracellular space...
  19. doi request reprint A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
    Eva Morava
    Radboud University Nijmegen Medical Centre, Institute for Genetic and Metabolic Disease, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 133:3210-20. 2010
    ....
  20. doi request reprint New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)
    Maria Antonietta Calvaruso
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mitochondrion 11:778-82. 2011
    ..This family illustrates the complexity of the clinical, biochemical and genetic characteristics of a novel mtDNA encoded disorder, as well as the challenge to prove its pathogenicity...