Genomes and Genes
Michel A Willemsen
Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands
- Neuroglycopenia in normoglycaemic patients, and the potential benefit of ketosisM 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...
- Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 geneMichel 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...
- Methylsulfonylmethane (MSM) ingestion causes a significant resonance in proton magnetic resonance spectra of brain and cerebrospinal fluidM 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...
- Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesisMichel 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..698G>A and c.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...
- Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke 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...
- Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke 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...
- Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practiceWilhelmina 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...
- Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWilhelmina 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...
- Rituximab and intravenous immunoglobulins for relapsing postinfectious opsoclonus-myoclonus syndromeWilhelmina 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...
- Two Greek siblings with sepiapterin reductase deficiencyMarcel 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...
- B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvementMailys 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...
- Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony 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...
- Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyEva 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...
- 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...
- A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva 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....