Anneke J van der Kooi

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. doi request reprint The phenotype of the Gly94fsX222 PMP22 insertion
    Sara D J de Vries
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Peripher Nerv Syst 16:113-8. 2011
  2. pmc Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers
    Steven Schade van Westrum
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, Amsterdam 1100 DD, The Netherlands
    BMC Neurol 13:88. 2013
  3. doi request reprint ANO5 mutations in the Dutch limb girdle muscular dystrophy population
    Anneke J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Neuromuscul Disord 23:456-60. 2013
  4. pmc Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases
    A J van der Kooi
    Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 69:114-6. 2000
  5. doi request reprint Extension of the clinical spectrum of Danon disease
    A J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam
    Neurology 70:1358-9. 2008
  6. ncbi request reprint Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families
    A J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Neurology 68:2125-8. 2007
  7. ncbi request reprint Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
    A J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 59:620-3. 2002
  8. ncbi request reprint Cardiac and pulmonary investigations in Bethlem myopathy
    Anneke J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Arch Neurol 63:1617-21. 2006
  9. doi request reprint VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Neurobiol Aging 33:2950.e1-4. 2012
  10. doi request reprint Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers
    Ingrid A W van Rijsingen
    Department of Cardiology Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Heart Fail 15:376-84. 2013

Detail Information

Publications35

  1. doi request reprint The phenotype of the Gly94fsX222 PMP22 insertion
    Sara D J de Vries
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Peripher Nerv Syst 16:113-8. 2011
    ..Clinicians should test for this mutation in those patients exhibiting a generalised neuropathy combined with compressive like episodes...
  2. pmc Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers
    Steven Schade van Westrum
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, Amsterdam 1100 DD, The Netherlands
    BMC Neurol 13:88. 2013
    ..Therefore we tested whether NT-proBNP can distinguish patients with Duchenne or Becker muscular dystrophy patients and carriers of a dystrophin mutation with a dilated cardiomyopathy from those without...
  3. doi request reprint ANO5 mutations in the Dutch limb girdle muscular dystrophy population
    Anneke J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Neuromuscul Disord 23:456-60. 2013
    ..Muscle biopsy showed predominantly dystrophic changes. One patient had hypertrophic cardiomyopathy, two others had intraventricular septum thickening...
  4. pmc Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases
    A J van der Kooi
    Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 69:114-6. 2000
    ..In conclusion, the clinical expression of FSHD is much broader than indicated by the nomenclature. The possibility to perform DNA tests is likely to greatly expand the clinical range of FSHD...
  5. doi request reprint Extension of the clinical spectrum of Danon disease
    A J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam
    Neurology 70:1358-9. 2008
  6. ncbi request reprint Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families
    A J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Neurology 68:2125-8. 2007
    ..In 51% of all families a classifying diagnosis was made. Several new mutations in LGMD2A, B, and C patients have been found in this population...
  7. ncbi request reprint Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
    A J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 59:620-3. 2002
    ..Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described...
  8. ncbi request reprint Cardiac and pulmonary investigations in Bethlem myopathy
    Anneke J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Arch Neurol 63:1617-21. 2006
    ..Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement...
  9. doi request reprint VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Neurobiol Aging 33:2950.e1-4. 2012
    ..V234I mutation was absent in control subjects, located in a region with high evolutionary conservation, and predicted to have damaging effects. Taken together, these findings provide additional evidence for an oligogenic basis of ALS...
  10. doi request reprint Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers
    Ingrid A W van Rijsingen
    Department of Cardiology Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Heart Fail 15:376-84. 2013
    ..There are few data on the impact of age and gender on cardiac disease penetrance and mortality...
  11. doi request reprint Parental age and the risk of amyotrophic lateral sclerosis
    Sonja W de Jong
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Amyotroph Lateral Scler Frontotemporal Degener 14:224-7. 2013
    ..Epi)genetic alterations that are associated with increased parental age are not, therefore, likely to contribute to the aetiology of sporadic ALS...
  12. doi request reprint Lifetime physical activity and the risk of amyotrophic lateral sclerosis
    Mark H B Huisman
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 84:976-81. 2013
    ..In a population based study, we determined the relation between physical activity and risk of sporadic ALS, using an objective approach for assessing physical activity...
  13. pmc Genetic overlap between apparently sporadic motor neuron diseases
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 7:e48983. 2012
    ..R69Q). The mutation frequency of these genes was similar in sporadic PMA (2.7%) and ALS (2.0%) patients, and therefore, our findings demonstrate a genetic overlap between apparently sporadic PMA and ALS...
  14. doi request reprint UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands
    Perry T C van Doormaal
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Neurobiol Aging 33:2233.e7-2233.e8. 2012
    ..Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands...
  15. doi request reprint Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 33:1016.e1-7. 2012
    ..SNP analysis did not reveal significant differences between ALS patients and control subjects. Therefore, variations in OPTN appear to be a rare cause of rapidly progressive SALS in the Netherlands...
  16. doi request reprint Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 33:1845.e1-3. 2012
    ..Thus, this study does not support the premise that mutations or polymorphisms in PON contribute to ALS susceptibility...
  17. doi request reprint H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis
    Wouter van Rheenen
    Department of Neurology, Rudolph Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 34:1517.e5-7. 2013
    ..After meta-analysis of previous studies and current findings we conclude that the H63D polymorphism in HFE is not associated with susceptibility to ALS, age at disease onset, or survival...
  18. doi request reprint Evidence for an oligogenic basis of amyotrophic lateral sclerosis
    Marka van Blitterswijk
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht 3584 CX, The Netherlands
    Hum Mol Genet 21:3776-84. 2012
    ..This may have important implications for the interpretation of whole exome/genome experiments designed to identify new ALS-associated genes and for genetic counselling, especially of unaffected family members...
  19. doi request reprint Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study
    Sonja W de Jong
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Am J Epidemiol 176:233-9. 2012
    ..The importance of population-based incident patient cohorts in identifying risk factors is highlighted by this study...
  20. doi request reprint VCP mutations in familial and sporadic amyotrophic lateral sclerosis
    Max Koppers
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Neurobiol Aging 33:837.e7-13. 2012
    ..Conservation analysis and protein prediction software indicate the p.I114V mutation to be a rare benign polymorphism. VCP mutations are a rare cause of familial ALS. The role of VCP mutations in sporadic ALS, if present, appears limited...
  21. doi request reprint Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
    Mark H B Huisman
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 82:1165-70. 2011
    ..The previously reported incidence decline in the elderly and a decrease in the male:female ratio in postmenopausal age groups have yet to be confirmed...
  22. doi request reprint Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial
    Esther Verstraete
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Neurol Neurosurg Psychiatry 83:557-64. 2012
    ..To determine the safety and efficacy of lithium for the treatment of amyotrophic lateral sclerosis (ALS) in a randomised, placebo controlled, double blind, sequential trial...
  23. doi request reprint In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia
    Jeroen Trip
    Department of Neurology, University Hospital Maastricht, Maastricht, The Netherlands
    Eur J Hum Genet 16:921-9. 2008
    ..Among these mutations, 13 in CLCN1 and 3 in SCN4A were novel. In conclusion, the current results show that in tandem analysis of CLCN1 and SCN4A affords high-level mutation ascertainment in families with NDM...
  24. doi request reprint Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study
    Ingrid A W van Rijsingen
    Department of Cardiology, Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands
    J Am Coll Cardiol 59:493-500. 2012
    ..The purpose of this study was to determine risk factors that predict malignant ventricular arrhythmias (MVA) in Lamin A/C (LMNA) mutation carriers...
  25. doi request reprint Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
    Ann Neurol 70:964-73. 2011
    ..We therefore investigated whether ANG variants could predispose to both ALS and PD...
  26. doi request reprint Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications
    Ingrid A W van Rijsingen
    ICIN Netherlands Heart Institute Durrer Center for Cardiogenetic Research, The Netherlands
    Int J Cardiol 168:472-7. 2013
    ..The purpose of this study was to determine whether a LMNA mutation is associated with an increased risk of thromboembolic complications...
  27. pmc Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
    Nadine A M E van der Beek
    Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, s Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands
    Orphanet J Rare Dis 7:88. 2012
    ..Furthermore, we defined the natural disease course and identified prognostic factors for disease progression...
  28. doi request reprint Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies
    Leroy Ten Dam
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Neurology 79:1716-23. 2012
    ..To evaluate the reliability and accuracy of skeletal muscle CT to correctly identify different muscular dystrophies manifesting with limb-girdle weakness...
  29. doi request reprint Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy
    Krista Kuitwaard
    Department of Neurology, Erasmus MC, University Medical Center Rotterdam, Room Ee 2230, PO Box 2040, Rotterdam 3000 CA, The Netherlands
    J Neurol Neurosurg Psychiatry 84:859-61. 2013
    ..To determine the variability of serum IgG in patients with chronic inflammatory demyelinating polyneuropathy (CIDP)...
  30. doi request reprint Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy
    Chiara S M Straathof
    Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands
    J Neurol 256:768-73. 2009
    ..Our data suggest that prednisone 10 on/10 off has relatively few side effects and extends the ambulant phase by 1 year compared to historical controls...
  31. doi request reprint Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Heidelbergaan 100, Utrecht, The Netherlands
    Amyotroph Lateral Scler 10:441-7. 2009
    ..14). We concluded that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe...
  32. doi request reprint Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2
    Alide A Tieleman
    Neuromuscular Center Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Center, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Neuromuscul Disord 18:646-9. 2008
    ..Gastrointestinal dysfunction may be attributed to any part of the gastrointestinal tract. The results provide new insight into the clinical picture of DM2...
  33. doi request reprint Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature
    Maaike M van der Graaff
    Department of Neurology, Academic Medical Center, 1100 DD Amsterdam, The Netherlands
    Arch Neurol 66:1329-33. 2009
    ..Both infranuclear and supranuclear mechanisms may play a role. Vocal cord dysfunction can occur at any stage of disease and may account for sudden death in ALS. Treatment of severe cases includes acute airway management and tracheotomy...
  34. doi request reprint Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy
    Joost Raaphorst
    Department of Neurology H2 235, Academic Medical Centre, Amsterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 82:170-5. 2011
    ..In addition, visuospatial functions were assessed comprehensively; these tests are underrepresented in earlier neuropsychological investigations in ALS...
  35. pmc Living with muscular dystrophy: health related quality of life consequences for children and adults
    Martha A Grootenhuis
    Pediatric Psychosocial Department, Emma Children s Hospital AMC, Amsterdam, The Netherlands
    Health Qual Life Outcomes 5:31. 2007
    ..Muscular dystrophies are chronic diseases manifesting with progressive muscle weakness leading to decreasing activities and participation. To understand the impact on daily life, it is important to determine patients' quality of life...